Evidence that nitrogen (N) fertilization tends to accelerate maturation as well as increase rates of growth has received little attention when diagnosing N deficiencies in corn (Zea mays L.).Such a tendency could be a...Evidence that nitrogen (N) fertilization tends to accelerate maturation as well as increase rates of growth has received little attention when diagnosing N deficiencies in corn (Zea mays L.).Such a tendency could be a potential source of errors when the diagnosis is solely based on comparing plants with different rates of growth.Whether N fertilization could accelerate rates of growth and maturation was tested in a field study with 12 paired plots representing relatively large variability in soil properties and landscape positions.The plots were located under conditions where preplant N fertilization reduced or avoided temporary N shortages for some plants but did not reduce for other plants early in the season.We measured corn heights to the youngest leaf collar,stages of growth and chlorophyll meter readings (CMRs). The added N advanced growth stages as well as increased corn heights and CMRs at any given time.Fertilization effects on corn heights,growth stages and ear weights were statistically significant (P<0.05) despite substantial variability associated with landscape.Reductions in growth due to a temporary shortage of N within a growth stage might be partially offset by longer periods of growth within that stage to physiological maturity.Temporary shortages of N,therefore,may produce symptoms of N deficiency in situations where subsequent additions of N should not be expected to increase yields.Recognition of these two somewhat different effects (i.e.,increase growth rates and advance growth stages) on corn growth could help to define N deficiency more precisely and to improve the accuracy of diagnosing N status in production agriculture.展开更多
Chronic atrophic autoimmune gastritis (CAAG) is an organ-specific autoimmune disease characterized by an immune response, which is directed towards the parietal cells and intrinsic factor of the gastric body and fundu...Chronic atrophic autoimmune gastritis (CAAG) is an organ-specific autoimmune disease characterized by an immune response, which is directed towards the parietal cells and intrinsic factor of the gastric body and fundus and leads to hypochlorhydria, hypergastrinemia and inadequate production of the intrinsic factor. As a result, the stomach’s secretion of essential substances, such as hydrochloric acid and intrinsic factor, is reduced, leading to digestive impairments. The most common is vitamin B12 deficiency, which results in a megaloblastic anemia and iron malabsorption, leading to iron deficiency anemia. However, in the last years the deficiency of several other vitamins and micronutrients, such as vitamin C, vitamin D, folic acid and calcium, has been increasingly described in patients with CAAG. In addition the occurrence of multiple vitamin deficiencies may lead to severe hematological, neurological and skeletal manifestations in CAAG patients and highlights the importance of an integrated evaluation of these patients. Nevertheless, the nutritional deficiencies in CAAG are largely understudied. We have investigated the frequency and associated features of nutritional deficiencies in CAAG in order to focus on any deficit that may be clinically significant, but relatively easy to correct. This descriptive review updates and summarizes the literature on different nutrient deficiencies in CAAG in order to optimize the treatment and the follow-up of patients affected with CAAG.展开更多
AIM To compare high-resolution computed tomography(HRCT) findings between humoral primary immunodeficiencies(hPIDs) subtypes; to correlate these findings to pulmonary function tests(PFTs).METHODS We retrospectively id...AIM To compare high-resolution computed tomography(HRCT) findings between humoral primary immunodeficiencies(hPIDs) subtypes; to correlate these findings to pulmonary function tests(PFTs).METHODS We retrospectively identified 52 consecutive adult patients with hPIDs who underwent 64-row HRCT and PFTs at the time of diagnosis. On a per-patient basis, an experienced radiologist recorded airway abnormalities(bronchiectasis,airway wall thickening, mucus plugging, tree-in-bud, and air-trapping) and parenchymal-interstitial abnormalities(consolidations, ground-glass opacities,linear and/or irregular opacities, nodules, and bullae/cysts) found on HRCT.The chi-square test was performed to compare the prevalence of each abnormality among patients with different subtypes of hPIDs. Overall logistic regression analysis was performed to assess whether HRCT findings predicted obstructive and/or restrictive PFTs results(absent-to-mild vs moderate-tosevere).RESULTS Thirty-eight of the 52 patients with hPIDs showed common variable immunodeficiency disorders(CVID), while the remaining 14 had CVID-like conditions(i.e., 11 had isolated IgG subclass deficiencies and 3 had selective IgA deficiencies). The prevalence of most HRCT abnormalities was not significantly different between CVID and CVID-like patients(P > 0.05), except for linear and/or irregular opacities(prevalence of 31.6% in the CVID group and 0 in the CVID-like group; P = 0.0427). Airway wall thickening was the most frequent HRCT abnormality found in both CVID and CVID-like patients(71% of cases in both groups). The presence of tree-in-bud abnormalities was an independent predictor of moderate-to-severe obstructive defects at PFTs(Odds Ratio, OR, of 18.75, P < 0.05), while the presence of linear and/or irregular opacities was an independent predictor of restrictive defects at PFTs(OR = 13.00; P < 0.05).CONCLUSION CVID and CVID-like patients showed similar HRCT findings. Tree-in-bud and linear and/or irregular opacities predicted higher risks of, respectively,obstructive and restrictive defects at PFTs.展开更多
Although Ghana produces natural gas and has several gas reserves, the country still depends on supplies from neighbouring countries for power generation due to challenges like fuel suppl</span><span style=&qu...Although Ghana produces natural gas and has several gas reserves, the country still depends on supplies from neighbouring countries for power generation due to challenges like fuel suppl</span><span style="font-family:Verdana;">y</span><span style="font-family:Verdana;"> inefficiencies and increasing cost of gas production. Gas supply is thus a limiting factor for power generation. This study explores strategies to improve gas supplies for sustainable power generation in Ghana. The study examined the underlying factors inhibiting gas supplies in Ghana, investigated the risks in the gas supply industry, and explored strategies for improving gas supplies in Ghana. The study adopted an inductive approach that utilises both qualitative and quantitative research methods. With the use of questionnaires, data were collected from 151 respondents who were selected by purposive and snowball sampling procedures. The collected data were descriptively and inferentially analysed with analytical tools in the SPSS. The study</span><span style="font-family:Verdana;">’</span><span style="font-family:Verdana;">s findings conclude that factors that inhibit gas supply in Ghana include the lack of growth and supply investment in the gas supply industry, power sector debt on the gas market, and the lack of an extensive distribution infrastructure/network. Also, the gas industry in Ghana lacks the requisite investment drive which culminates into inefficiency and ultimately undermines efforts to achieve sustainable power generation. Politics influence in issues relating to gas supplies in Ghana inhibits long-term supply relationships and permanent infrastructure in gas supply, both locally and on the world market.展开更多
This paper reviews some recent findings on the interactions between selenium deficiency and iodine deficency. Both micronutrients can control the levels of selenoprotein mRNAs, particularly in the thyroid and brain. W...This paper reviews some recent findings on the interactions between selenium deficiency and iodine deficency. Both micronutrients can control the levels of selenoprotein mRNAs, particularly in the thyroid and brain. When selenium and iodine supplies are limiting the compensatory mechanisms work to minimise adverse effects on thyroid hormone metabolsm and thus neurological developtnent. The mechanisms for regulation of selenoproteins in selenium and iodine deficiency are however very tissue-specific. For example, unlike the brain and thyroid,brown adipose tissue is unable to retain selenoproteins in selenium and iodine deficiency and is therefore at greater risk from injurious effects of the deficiencies.展开更多
Data gathered from the 1987 National Nutrition Survey in the Philippines provided the opportunity to study the interactions among micronutrient deficiencies and undernutrition in different age groups as basis for prog...Data gathered from the 1987 National Nutrition Survey in the Philippines provided the opportunity to study the interactions among micronutrient deficiencies and undernutrition in different age groups as basis for program targeting. A randomly selected set of 50% of the households (3,200) covered by the national survey served as source of subjects. Results showed that there was a greater proportion of anemia among the undernourished (as judged by weight for age in children and weight for height in adults) (66.0%)than among the adequately nourished (54.6%) (P <0.01 ). However, the observed differencesin the proportion of serum vitamin A deficiency and of goiter among the undernourished compared to the adequately nourished were not significant. Also not significant were the observed higher prevalence of anemia among subjects with acceptable serum vitamin A levels for both adequately nourished and undernourished, and the higher prevalence of vitamin A deficiency among the non-anemics. Again there were no significant differences in the prevalence of anemia among goitrous and non-goitrous subjects, as well as the prevalence of goiter among anemic and non-anemic subjects. Neither were there significant differences in the prevalence of vitamin A deficiency among goitrous and non-goitrous subjects, but there were significant differences in the prevalence of goiter among vitamin A deficient and non-vitamin A defjcient subjects among the 7-14 years old and among pregnant and lactating women.The study concludes that at the national level, there is apparently an interaction between anemia and protein-energy undernutrition and possibly also between goiter and vitamin A deficiency in the high-risk age groups, but between anemia on the one hand and goiter and vitamin A deficiency in the other, perhaps because of clustering in the latter conditions not found in anemia and general undernutrition. These findings may be useful in targeting communities with high prevalence of micronutrient deficiencies by using prevalence of underweight and goiter as indicators for high prevalence of anemia and vitamin A deficiency, respectively展开更多
<strong>Objective:</strong> To compare the congenital tooth deficiencies seen in permanent dentition in individuals with unilateral cleft lip and palate (UCLP) to non-cleft individuals with Angle Class I m...<strong>Objective:</strong> To compare the congenital tooth deficiencies seen in permanent dentition in individuals with unilateral cleft lip and palate (UCLP) to non-cleft individuals with Angle Class I malocclusion. <strong>Method:</strong> The study was performed on orthopantomograph films of 50 individuals with UCLP aged between 12 - 16 years and 50 individuals with Angle Class I malocclusion individuals aged between 13 - 15 years. Individuals with UCLP;32 clefts were on the left side and 18 clefts were on the right side. Permanent third molar teeth deficiency was excluded from the study. <strong>Results: </strong>In 50 individuals with UCLP;35 (70%) upper lateral incisors were congenitally deficient in the cleft area, while 15 (30%) missing lateral teeth were found in the non-cleft side. In control group, 12 (24%) of 50 patients had congenital lateral incisor deficiency. Congenital deficiency of upper lateral incisor in UCLP;the cleft area was higher than the non-cleft side (p < 0.01). The difference was statistically important when compared with the control group (p < 0.001). In 50 individuals with UCLP;while 27 (54%) of second premolar teeth were congenitally deficient in cleft side, 23 (46%) were missing in non-cleft side. In control group, 18 (36%) congenital second premolar deficiency was detected. However, second premolar congenital deficiency was higher in UCLP group when compared to control group (p < 0.01). <strong>Conclusion:</strong> The deficiency of the lateral incisors in the cleft side is more often congenitally deficient than upper second premolar teeth and this should be considered in the treatment planning from an early age.展开更多
The Syllabus for English Majors at Universities and Colleges(2000) makes it clear to further strengthen the English majors' critical thinking and logical reasoning ability.But how to effectively incorporate the cu...The Syllabus for English Majors at Universities and Colleges(2000) makes it clear to further strengthen the English majors' critical thinking and logical reasoning ability.But how to effectively incorporate the cultivation of critical thinking skills into English majors' core courses,such as the writing courses,remains one of the most important tasks of teaching reform for English majors.The present study is aimed at having a systematic analysis on the causal reasoning deficiencies in English majors' argumentative writing.Furthermore,the reasons resulting in the causal reasoning deficiencies and the implications for the teaching of second language writing are explored.展开更多
Nutrient deficiencies are prevalent worldwide.Diseases and morbid conditions have been described to result from nutritional deficiencies.It is essential to address nutrient deficiencies as these may lead to chronic lo...Nutrient deficiencies are prevalent worldwide.Diseases and morbid conditions have been described to result from nutritional deficiencies.It is essential to address nutrient deficiencies as these may lead to chronic longterm health problems such as rickets,iron deficiency anemia,goiter,obesity,coronary heart disease,type2 diabetes,stroke,cancer and osteoporosis.In the present review we surveyed the extent and severity of nutritional deficiencies in Israel through a selective and comprehensive Medline review of previous reports and studies performed during the last 40 years.Israel populations have multiple nutritional deficiencies,including iron,calcium,zinc,folic acid,and vitamins B12,C,D and E,spanning all age groups,several minorities,and specific regions.In Israel,some of the nutrients are mandatorily implemented and many of them are implemented voluntarily by local industries.We suggest ways to prevent and treat the nutritional deficiencies,as a step to promote food fortification in Israel.展开更多
Nutrient deficiency stresses often occur simultaneously in soil. Thus, it's necessary to investigate the mechanisms underlying plant responses to multiple stresses through identification of some key stress-responsive...Nutrient deficiency stresses often occur simultaneously in soil. Thus, it's necessary to investigate the mechanisms underlying plant responses to multiple stresses through identification of some key stress-responsive genes. Quantitative real-time PCR (qRT-PCR) is essential for detecting the expression of the interested genes, of which the selection of suitable reference genes is a crucial step before qRT-PCR. To date, reliable reference genes to normalize qRT-PCR data under different nutrient deficiencies have not been reported in plants. In this study, expression of ten candidate reference genes was detected in leaves and roots of rapeseed (Brassica napus L.) after implementing different nutrient deficiencies for 14 days. These candidate genes, included two traditionally used reference genes and eight genes selected from an RNA- Seq dataset. Two software packages (GeNorm, NormFinder) were employed to evaluate candidate gene stability. Results showed that VHA-E1 was the highest-ranked gene in leaves of nutrient-deficient rapeseed, while VHA-G1 and UBC21 were most stable in nutrient-deficient roots. When rapeseed leaves and roots were combined, UBC21, HTB1, VHA-G1 and A CT7 were most stable among all samples. To evaluate the stabilities of the highest-ranked genes, the relative expression of two target genes, BnTrxl;1 and BnPhtl;3 Were further determined. The results showed that the relative expression of BnTrxl;1 depended on reference gene selection, suggesting that it's necessary to evaluate the stability of reference gene prior to qRT-PCR. This study provides suitable reference genes for gene expression analysis of rapeseed responses to different nutrient deficiencies, which is essential for elucidation of mechanisms underlying rapeseed responses to multiple nutrient deficiency stresses展开更多
Objective: Nutritional deficiencies are known side-effects of bariatric surgeries, specifically in those that bypass the proximal intestine. Therefore, in clinical practice, vitamin and mineral supplementations are of...Objective: Nutritional deficiencies are known side-effects of bariatric surgeries, specifically in those that bypass the proximal intestine. Therefore, in clinical practice, vitamin and mineral supplementations are often necessary after such operations. It was our intention to evaluate, whether alimentary deficiencies occur with the same frequency in patients following Sleeve-Gastrectomy (SG) compared to Roux-en-Y Gastric Bypass (RYGB) surgeries. Methods: We conducted a retrospective data analysis of 171 patients (121 RYGB, 50 SG). Vitamin levels were compared between SG and RYGB patients over the first post-operative year. Furthermore, regression analysis was performed with regard to vitamin and iron supplementations and their recommended dosages. Complications occurring within the first post-surgical year were documented as well. Results: Other than vitamin B6 deficiency, which was found to be more frequent in SG patients, there was no other significant difference regarding the type of operation and the number of patients who had these deficiencies. There was no significant difference in average vitamin and iron levels between RYGB and SG. A minimum dose of 1000 IU vitamin D per day was necessary to affect vitamin D levels. The intramuscular administration of vitamin B12 was the only route found to be effective. Complications within the first year were rare. Conclusions: Against common assumptions, vitamin and iron deficiencies in SG patients are not less frequent in the first post-surgical year?in comparison to RYGB patients. Standard supplementations should include iron in premenopausal women: Vitamin D at least 1000 IU per day and vitamin B12 i.m. administration in case of a deficiency.展开更多
Leaf senescence is an orderly and highly coordinated process,and finely regulated by ethylene and nitrogen(N),ultimately affecting grain yield and nitrogen-use efficiency(NUE).However,the underlying regulatory mechani...Leaf senescence is an orderly and highly coordinated process,and finely regulated by ethylene and nitrogen(N),ultimately affecting grain yield and nitrogen-use efficiency(NUE).However,the underlying regulatory mechanisms on the crosstalk between ethylene-and N-regulated leaf senescence remain a mystery in maize.In this study,ethylene biosynthesis gene ZmACS7 overexpressing(OE-ZmACS7)plants were used to study the role of ethylene regulating leaf senescence in response to N deficiency,and they exhibited the premature leaf senescence accompanied by increased ethylene release,decreased chlorophyll content and F_v/F_m ratio,and accelerated chloroplast degradation.Then,we investigated the dynamics changes of transcriptome reprogramming underlying ethylene-accelerated leaf senescence in response to N deficiency.The differentially expressed genes(DEGs)involved in chlorophyll biosynthesis were significantly down-regulated,while DEGs involved in chlorophyll degradation and autophagy processes were significantly up-regulated,especially in OE-ZmACS7 plants in response to N deficiency.A gene regulatory network(GRN)was predicted during ethylene-accelerated leaf senescence in response to N deficiency.Three transcription factors(TFs)ZmHSF4,Zmb HLH106,and ZmEREB147 were identified as the key regulatory genes,which targeted chlorophyll biosynthesis gene ZmLES22,chlorophyll degradation gene ZmNYC1,and autophagy-related gene ZmATG5,respectively.Furthermore,ethylene signaling key genes might be located upstream of these TFs,generating the signaling cascade networks during ethylene-accelerated leaf senescence in response to N deficiency.Collectively,these findings improve our molecular knowledge of ethylene-accelerated maize leaf senescence in response to N deficiency,which is promising to improve NUE by manipulating the progress of leaf senescence in maize.展开更多
Many studies have shown that chlorophyll meter readings (CMRs) can be used to diagnose deficiencies of nitrogen (N) during the growth of corn (Zea mays L.) in small-plot trials, but there is need to address addi...Many studies have shown that chlorophyll meter readings (CMRs) can be used to diagnose deficiencies of nitrogen (N) during the growth of corn (Zea mays L.) in small-plot trials, but there is need to address additional problems encountered when diagnoses are made in fields of the size managed in production agriculture. A noteworthy difference between smallplot trials and production agriculture is the extent to which the effects of N are confounded with the effects of other factors such as tillage, landscape, soil organic matter and moisture content. We illustrate how some of these factors can cause differences in the physiological age of plants and introduce errors in the diagnoses of N deficiencies. We suggest methods (measuring the height to the youngest leaf collar and assigning leaf numbers by using the first leaf with pubescence and the ear leaf as references to identify growth stages) for minimizing these errors. The simplified method of growth stage identification can be used to select appropriate plants and leaves for making diagnoses in fields and to distinguish the effects of N from the effects of other factors that influence plant growth.展开更多
<strong>Background:</strong><span style="font-family:Verdana;"> Primary Immune Deficiencies (PID) are rare, under-determined </span><span style="font-family:"">&l...<strong>Background:</strong><span style="font-family:Verdana;"> Primary Immune Deficiencies (PID) are rare, under-determined </span><span style="font-family:""><span style="font-family:Verdana;">diseases particularly in sub-Saharan Africa. The diagnosis is often suspected with uncommon clinical signs. Infections are the main diagnostic circumstances in infants. Confirmation is often difficult because some additional examinations are unavailable in many of our countries. </span><b><span style="font-family:Verdana;">Aim: </span></b><span style="font-family:Verdana;">Our aim was to share the challenge of diagnosis and treatment in PID. </span><b><span style="font-family:Verdana;">Case Presentation:</span></b><span style="font-family:Verdana;"> It is about two infants, a boy and a girl, with early several infections. Both of them presented a hypo-gammaglobulinemia and to the boy, the immuno-phenotyping lymphocyte showed a decrease</span></span><span style="font-family:Verdana;">d</span><span style="font-family:Verdana;"> level of lymphocytes CD19. We are looking for genetic confirmation but it is not easy. The treatment of these infants require</span><span style="font-family:Verdana;">s</span><span style="font-family:Verdana;"> a substitution for life of immunoglobulin w</span><span style="font-family:Verdana;">h</span><span style="font-family:Verdana;">ich </span><span style="font-family:Verdana;">is</span><span style="font-family:""><span style="font-family:Verdana;"> unavailable in our countries. </span><b><span style="font-family:Verdana;">Conclusion:</span></b><span style="font-family:Verdana;"> PID are suspected with atypical clinical signs. Confirmation genetic diagnosis is difficult in low income countries. To improve the follow up, we need to strengthen clinical-biological collaboration.</span></span>展开更多
BACKGROUND Congenital transverse deficiencies are horizontal deficiencies of the long bones that occur with a reported incidence as high 0.38%.They can occur alone or represent a manifestation of a various clinical sy...BACKGROUND Congenital transverse deficiencies are horizontal deficiencies of the long bones that occur with a reported incidence as high 0.38%.They can occur alone or represent a manifestation of a various clinical syndromes.Diagnosis has tradi-tionally comprised of conventional radiography and prenatal imaging studies.There has been much advancement regarding prenatal imaging modalities to allow for early diagnosis and appropriate treatment.AIM To summarize the current state of knowledge on congenital transverse limb deficiencies and to provide an update regarding the radiographic evaluation of congenital transverse limb deficiencies.METHODS This IRB-exempt scoping review followed the PRISMA-ScR checklist for scoping reviews strictly.Five search engines were searched for a total of 265 publications.Four authors reviewed these during the screening process.Of these,51 studies were included in our article.Prenatal magnetic resonance imaging(MRI),3D Ultrasound,and multidetector Computed tomography(CT)exist are emerging modalities that have the potential to improve diagnosis.RESULTS Use of the appropriate classification system,three-dimensional ultrasonography with a maximum intensity projection,and appropriate use of prenatal MRI and prenatal CT can improve diagnosis and inter-provider communication.CONCLUSION Further scholarly efforts are required to develop improve standardized guidelines regarding the pre-natal radiographic evaluation of congenital limb deficiencies.展开更多
Many prior research findings indicate that audit quality differs between the Big 4 and non-Big 4 audit firms using an indicator variable. However, most previous research focuses on only outcome measures, such as audit...Many prior research findings indicate that audit quality differs between the Big 4 and non-Big 4 audit firms using an indicator variable. However, most previous research focuses on only outcome measures, such as audit fees, going concern reports, and non-audit services. This study investigates audit quality differentiation between the Big 4 and non-Big 4 audit firms hypothesis from an audit objective point of view. One of the material objectives of Japanese internal control audit institutions is to facilitate assessment and improvement of internal controls by corporations themselves. The findings of this study indicate that the Big 4 audit firms accomplish this objective better than non-Big 4 audit firms. Consequently, most Big 4 clients do not disclose significant deficiencies (SDs), implying that they improve the quality of internal controls through internal controls auditing. This paper concludes that Big 4 firms produce a higher audit quality level than non-Big 4 firms, and this quality difference iS related to how an audit objective is interpreted and implemented.展开更多
Iron deficiency anemia(IDA)continues to be a global public health problem.Oral iron is the universally accepted first-line therapy,and most children have a prompt and favorable response to oral formulations.In subsets...Iron deficiency anemia(IDA)continues to be a global public health problem.Oral iron is the universally accepted first-line therapy,and most children have a prompt and favorable response to oral formulations.In subsets of children who fail to respond due to intolerance,poor adherence,or inadequate intestinal absorption,parenteral iron is indicated.Despite numerous studies in adults with IDA of diverse etiologies,pediatric studies on parenteral iron use are very limited.Although mostly retrospective and small,these studies have documented the efficacy and safety profile of intravenous iron formulations.In this editorial the author comments on the most important published data and underscores the need to seriously consider parenteral iron use in children unresponsive to oral therapy.展开更多
Prekallikrein deficiency is a disorder that often remains undiagnosed. Prekallikrein activates factor XII, which initiates the intrinsic coagulation pathway. Prekallikrein deficiency results in prolonged Partial Throm...Prekallikrein deficiency is a disorder that often remains undiagnosed. Prekallikrein activates factor XII, which initiates the intrinsic coagulation pathway. Prekallikrein deficiency results in prolonged Partial Thromboplastin Time and Activated Clotting Time in absence of anticoagulants or active bleeding. This case report describes the anesthesia management of a patient with Prekallikrein deficiency who underwent cardiac surgery with Cardiopulmonary Bypass for correction of a congenital cardiac malformation. We highlight the importance of understanding the different tests available for the diagnosis of coagulation factors deficiency during administration of heparin in the setting of cardiovascular procedures under general anesthesia.展开更多
Primary Budd-Chiari syndrome (BCS) is a spontaneously fatal disease characterized by an obstruction of the hepatic venous outflow tract due to thrombosis or a primary disease of the venous wall. The primary form of BC...Primary Budd-Chiari syndrome (BCS) is a spontaneously fatal disease characterized by an obstruction of the hepatic venous outflow tract due to thrombosis or a primary disease of the venous wall. The primary form of BCS is extremely rare. This is a disease mainly affecting young adults of both sexes. Clinical manifestations are variable;they can be asymptomatic, acute, or subacute but mostly chronic. Several causes have been identified, such as myeloproliferative syndrome, antiphospholipid syndrome, paroxysmal nocturnal hemoglobinuria, and inherited thrombotic disorders. Data on primary BCS in Sub-Saharan Africa is rare as most publications available are case reports. In these reports, the causes are unknown with poor prognosis in most cases often leading to patient death. We herein present a case report of a male patient diagnosed with a primary BCS at Yaoundé General Hospital (Cameroon) caused by a Protein C deficiency who presented with ascites decompensating liver cirrhosis. Treatment was based on anticoagulants, diuretics and laxatives administration. Two years after the diagnosis, the patient is alive with clinical and paraclinical improvement.展开更多
Objective To examine the clinical phenotype and genetic deficiencies present in Chinese aniridia families with PAX6 haplotype deficiency.Methods A comprehensive questionnaire and ophthalmological assessments were admi...Objective To examine the clinical phenotype and genetic deficiencies present in Chinese aniridia families with PAX6 haplotype deficiency.Methods A comprehensive questionnaire and ophthalmological assessments were administered to both affected patients and unaffected relatives.The clinical feature analysis included the evaluation of visual acuity,intraocular pressure,slit-lamp anterior segment examination,fundus photography,and spectral domain optical coherence tomography.To identify the mutation responsible for aniridia,targeted next-generation sequencing was used as a beneficial technique.Results A total of 4 mutations were identified,consisting of two novel frameshift mutations(c.314delA,p.K105Sfs*33 and c.838_845dup AACACACC,p.S283Tfs*85),along with two recurring nonsense mutations(c.307C>T,p.R103X and c.619A>T,p.K207*).Complete iris absence,macular foveal hypoplasia,and nystagmus were consistent in these PAX6 haplotype-deficient Chinese aniridia families,while corneal lesions,cataracts,and glaucoma exhibited heterogeneity both among the families and within the same family.Conclusion In our study,two novel PAX6 mutations associated with aniridia were identified in Chinese families,which expanded the phenotypic and genotypic spectrum of PAX6 mutations.We also analyzed the clinical characteristics of PAX6 haplotype deficiency in Chinese aniridia families.展开更多
基金Project supported by the Iowa Soybean Association,USA through the ISA On-Farm Network~(TM)
文摘Evidence that nitrogen (N) fertilization tends to accelerate maturation as well as increase rates of growth has received little attention when diagnosing N deficiencies in corn (Zea mays L.).Such a tendency could be a potential source of errors when the diagnosis is solely based on comparing plants with different rates of growth.Whether N fertilization could accelerate rates of growth and maturation was tested in a field study with 12 paired plots representing relatively large variability in soil properties and landscape positions.The plots were located under conditions where preplant N fertilization reduced or avoided temporary N shortages for some plants but did not reduce for other plants early in the season.We measured corn heights to the youngest leaf collar,stages of growth and chlorophyll meter readings (CMRs). The added N advanced growth stages as well as increased corn heights and CMRs at any given time.Fertilization effects on corn heights,growth stages and ear weights were statistically significant (P<0.05) despite substantial variability associated with landscape.Reductions in growth due to a temporary shortage of N within a growth stage might be partially offset by longer periods of growth within that stage to physiological maturity.Temporary shortages of N,therefore,may produce symptoms of N deficiency in situations where subsequent additions of N should not be expected to increase yields.Recognition of these two somewhat different effects (i.e.,increase growth rates and advance growth stages) on corn growth could help to define N deficiency more precisely and to improve the accuracy of diagnosing N status in production agriculture.
文摘Chronic atrophic autoimmune gastritis (CAAG) is an organ-specific autoimmune disease characterized by an immune response, which is directed towards the parietal cells and intrinsic factor of the gastric body and fundus and leads to hypochlorhydria, hypergastrinemia and inadequate production of the intrinsic factor. As a result, the stomach’s secretion of essential substances, such as hydrochloric acid and intrinsic factor, is reduced, leading to digestive impairments. The most common is vitamin B12 deficiency, which results in a megaloblastic anemia and iron malabsorption, leading to iron deficiency anemia. However, in the last years the deficiency of several other vitamins and micronutrients, such as vitamin C, vitamin D, folic acid and calcium, has been increasingly described in patients with CAAG. In addition the occurrence of multiple vitamin deficiencies may lead to severe hematological, neurological and skeletal manifestations in CAAG patients and highlights the importance of an integrated evaluation of these patients. Nevertheless, the nutritional deficiencies in CAAG are largely understudied. We have investigated the frequency and associated features of nutritional deficiencies in CAAG in order to focus on any deficit that may be clinically significant, but relatively easy to correct. This descriptive review updates and summarizes the literature on different nutrient deficiencies in CAAG in order to optimize the treatment and the follow-up of patients affected with CAAG.
基金funded by Department of Medicine, University of Udine (Udine, Italy) in accordance with Good Publication Practice (GPP3) guidelines (http://www.ismpp.org/gpp3)
文摘AIM To compare high-resolution computed tomography(HRCT) findings between humoral primary immunodeficiencies(hPIDs) subtypes; to correlate these findings to pulmonary function tests(PFTs).METHODS We retrospectively identified 52 consecutive adult patients with hPIDs who underwent 64-row HRCT and PFTs at the time of diagnosis. On a per-patient basis, an experienced radiologist recorded airway abnormalities(bronchiectasis,airway wall thickening, mucus plugging, tree-in-bud, and air-trapping) and parenchymal-interstitial abnormalities(consolidations, ground-glass opacities,linear and/or irregular opacities, nodules, and bullae/cysts) found on HRCT.The chi-square test was performed to compare the prevalence of each abnormality among patients with different subtypes of hPIDs. Overall logistic regression analysis was performed to assess whether HRCT findings predicted obstructive and/or restrictive PFTs results(absent-to-mild vs moderate-tosevere).RESULTS Thirty-eight of the 52 patients with hPIDs showed common variable immunodeficiency disorders(CVID), while the remaining 14 had CVID-like conditions(i.e., 11 had isolated IgG subclass deficiencies and 3 had selective IgA deficiencies). The prevalence of most HRCT abnormalities was not significantly different between CVID and CVID-like patients(P > 0.05), except for linear and/or irregular opacities(prevalence of 31.6% in the CVID group and 0 in the CVID-like group; P = 0.0427). Airway wall thickening was the most frequent HRCT abnormality found in both CVID and CVID-like patients(71% of cases in both groups). The presence of tree-in-bud abnormalities was an independent predictor of moderate-to-severe obstructive defects at PFTs(Odds Ratio, OR, of 18.75, P < 0.05), while the presence of linear and/or irregular opacities was an independent predictor of restrictive defects at PFTs(OR = 13.00; P < 0.05).CONCLUSION CVID and CVID-like patients showed similar HRCT findings. Tree-in-bud and linear and/or irregular opacities predicted higher risks of, respectively,obstructive and restrictive defects at PFTs.
文摘Although Ghana produces natural gas and has several gas reserves, the country still depends on supplies from neighbouring countries for power generation due to challenges like fuel suppl</span><span style="font-family:Verdana;">y</span><span style="font-family:Verdana;"> inefficiencies and increasing cost of gas production. Gas supply is thus a limiting factor for power generation. This study explores strategies to improve gas supplies for sustainable power generation in Ghana. The study examined the underlying factors inhibiting gas supplies in Ghana, investigated the risks in the gas supply industry, and explored strategies for improving gas supplies in Ghana. The study adopted an inductive approach that utilises both qualitative and quantitative research methods. With the use of questionnaires, data were collected from 151 respondents who were selected by purposive and snowball sampling procedures. The collected data were descriptively and inferentially analysed with analytical tools in the SPSS. The study</span><span style="font-family:Verdana;">’</span><span style="font-family:Verdana;">s findings conclude that factors that inhibit gas supply in Ghana include the lack of growth and supply investment in the gas supply industry, power sector debt on the gas market, and the lack of an extensive distribution infrastructure/network. Also, the gas industry in Ghana lacks the requisite investment drive which culminates into inefficiency and ultimately undermines efforts to achieve sustainable power generation. Politics influence in issues relating to gas supplies in Ghana inhibits long-term supply relationships and permanent infrastructure in gas supply, both locally and on the world market.
文摘This paper reviews some recent findings on the interactions between selenium deficiency and iodine deficency. Both micronutrients can control the levels of selenoprotein mRNAs, particularly in the thyroid and brain. When selenium and iodine supplies are limiting the compensatory mechanisms work to minimise adverse effects on thyroid hormone metabolsm and thus neurological developtnent. The mechanisms for regulation of selenoproteins in selenium and iodine deficiency are however very tissue-specific. For example, unlike the brain and thyroid,brown adipose tissue is unable to retain selenoproteins in selenium and iodine deficiency and is therefore at greater risk from injurious effects of the deficiencies.
文摘Data gathered from the 1987 National Nutrition Survey in the Philippines provided the opportunity to study the interactions among micronutrient deficiencies and undernutrition in different age groups as basis for program targeting. A randomly selected set of 50% of the households (3,200) covered by the national survey served as source of subjects. Results showed that there was a greater proportion of anemia among the undernourished (as judged by weight for age in children and weight for height in adults) (66.0%)than among the adequately nourished (54.6%) (P <0.01 ). However, the observed differencesin the proportion of serum vitamin A deficiency and of goiter among the undernourished compared to the adequately nourished were not significant. Also not significant were the observed higher prevalence of anemia among subjects with acceptable serum vitamin A levels for both adequately nourished and undernourished, and the higher prevalence of vitamin A deficiency among the non-anemics. Again there were no significant differences in the prevalence of anemia among goitrous and non-goitrous subjects, as well as the prevalence of goiter among anemic and non-anemic subjects. Neither were there significant differences in the prevalence of vitamin A deficiency among goitrous and non-goitrous subjects, but there were significant differences in the prevalence of goiter among vitamin A deficient and non-vitamin A defjcient subjects among the 7-14 years old and among pregnant and lactating women.The study concludes that at the national level, there is apparently an interaction between anemia and protein-energy undernutrition and possibly also between goiter and vitamin A deficiency in the high-risk age groups, but between anemia on the one hand and goiter and vitamin A deficiency in the other, perhaps because of clustering in the latter conditions not found in anemia and general undernutrition. These findings may be useful in targeting communities with high prevalence of micronutrient deficiencies by using prevalence of underweight and goiter as indicators for high prevalence of anemia and vitamin A deficiency, respectively
文摘<strong>Objective:</strong> To compare the congenital tooth deficiencies seen in permanent dentition in individuals with unilateral cleft lip and palate (UCLP) to non-cleft individuals with Angle Class I malocclusion. <strong>Method:</strong> The study was performed on orthopantomograph films of 50 individuals with UCLP aged between 12 - 16 years and 50 individuals with Angle Class I malocclusion individuals aged between 13 - 15 years. Individuals with UCLP;32 clefts were on the left side and 18 clefts were on the right side. Permanent third molar teeth deficiency was excluded from the study. <strong>Results: </strong>In 50 individuals with UCLP;35 (70%) upper lateral incisors were congenitally deficient in the cleft area, while 15 (30%) missing lateral teeth were found in the non-cleft side. In control group, 12 (24%) of 50 patients had congenital lateral incisor deficiency. Congenital deficiency of upper lateral incisor in UCLP;the cleft area was higher than the non-cleft side (p < 0.01). The difference was statistically important when compared with the control group (p < 0.001). In 50 individuals with UCLP;while 27 (54%) of second premolar teeth were congenitally deficient in cleft side, 23 (46%) were missing in non-cleft side. In control group, 18 (36%) congenital second premolar deficiency was detected. However, second premolar congenital deficiency was higher in UCLP group when compared to control group (p < 0.01). <strong>Conclusion:</strong> The deficiency of the lateral incisors in the cleft side is more often congenitally deficient than upper second premolar teeth and this should be considered in the treatment planning from an early age.
文摘The Syllabus for English Majors at Universities and Colleges(2000) makes it clear to further strengthen the English majors' critical thinking and logical reasoning ability.But how to effectively incorporate the cultivation of critical thinking skills into English majors' core courses,such as the writing courses,remains one of the most important tasks of teaching reform for English majors.The present study is aimed at having a systematic analysis on the causal reasoning deficiencies in English majors' argumentative writing.Furthermore,the reasons resulting in the causal reasoning deficiencies and the implications for the teaching of second language writing are explored.
文摘Nutrient deficiencies are prevalent worldwide.Diseases and morbid conditions have been described to result from nutritional deficiencies.It is essential to address nutrient deficiencies as these may lead to chronic longterm health problems such as rickets,iron deficiency anemia,goiter,obesity,coronary heart disease,type2 diabetes,stroke,cancer and osteoporosis.In the present review we surveyed the extent and severity of nutritional deficiencies in Israel through a selective and comprehensive Medline review of previous reports and studies performed during the last 40 years.Israel populations have multiple nutritional deficiencies,including iron,calcium,zinc,folic acid,and vitamins B12,C,D and E,spanning all age groups,several minorities,and specific regions.In Israel,some of the nutrients are mandatorily implemented and many of them are implemented voluntarily by local industries.We suggest ways to prevent and treat the nutritional deficiencies,as a step to promote food fortification in Israel.
基金supported by the grants from the Agricultural Science and Technology Innovation Program,Chinese Academy of Agricultural Sciences(CAAS-ASTIP-2013OCRI)the Excellent Young Scientist Fund of Chinese Academy of Agricultural Sciences(1610172015004)an open project funded by State Key Laboratory for the Conservation and Utilization of Subtropical Agro-bioresources,China(SKLCUSA-b201403)
文摘Nutrient deficiency stresses often occur simultaneously in soil. Thus, it's necessary to investigate the mechanisms underlying plant responses to multiple stresses through identification of some key stress-responsive genes. Quantitative real-time PCR (qRT-PCR) is essential for detecting the expression of the interested genes, of which the selection of suitable reference genes is a crucial step before qRT-PCR. To date, reliable reference genes to normalize qRT-PCR data under different nutrient deficiencies have not been reported in plants. In this study, expression of ten candidate reference genes was detected in leaves and roots of rapeseed (Brassica napus L.) after implementing different nutrient deficiencies for 14 days. These candidate genes, included two traditionally used reference genes and eight genes selected from an RNA- Seq dataset. Two software packages (GeNorm, NormFinder) were employed to evaluate candidate gene stability. Results showed that VHA-E1 was the highest-ranked gene in leaves of nutrient-deficient rapeseed, while VHA-G1 and UBC21 were most stable in nutrient-deficient roots. When rapeseed leaves and roots were combined, UBC21, HTB1, VHA-G1 and A CT7 were most stable among all samples. To evaluate the stabilities of the highest-ranked genes, the relative expression of two target genes, BnTrxl;1 and BnPhtl;3 Were further determined. The results showed that the relative expression of BnTrxl;1 depended on reference gene selection, suggesting that it's necessary to evaluate the stability of reference gene prior to qRT-PCR. This study provides suitable reference genes for gene expression analysis of rapeseed responses to different nutrient deficiencies, which is essential for elucidation of mechanisms underlying rapeseed responses to multiple nutrient deficiency stresses
文摘Objective: Nutritional deficiencies are known side-effects of bariatric surgeries, specifically in those that bypass the proximal intestine. Therefore, in clinical practice, vitamin and mineral supplementations are often necessary after such operations. It was our intention to evaluate, whether alimentary deficiencies occur with the same frequency in patients following Sleeve-Gastrectomy (SG) compared to Roux-en-Y Gastric Bypass (RYGB) surgeries. Methods: We conducted a retrospective data analysis of 171 patients (121 RYGB, 50 SG). Vitamin levels were compared between SG and RYGB patients over the first post-operative year. Furthermore, regression analysis was performed with regard to vitamin and iron supplementations and their recommended dosages. Complications occurring within the first post-surgical year were documented as well. Results: Other than vitamin B6 deficiency, which was found to be more frequent in SG patients, there was no other significant difference regarding the type of operation and the number of patients who had these deficiencies. There was no significant difference in average vitamin and iron levels between RYGB and SG. A minimum dose of 1000 IU vitamin D per day was necessary to affect vitamin D levels. The intramuscular administration of vitamin B12 was the only route found to be effective. Complications within the first year were rare. Conclusions: Against common assumptions, vitamin and iron deficiencies in SG patients are not less frequent in the first post-surgical year?in comparison to RYGB patients. Standard supplementations should include iron in premenopausal women: Vitamin D at least 1000 IU per day and vitamin B12 i.m. administration in case of a deficiency.
基金funded by the National Natural Science Foundation of China (31871546)China Postdoctoral Science Foundation (2022M720418)。
文摘Leaf senescence is an orderly and highly coordinated process,and finely regulated by ethylene and nitrogen(N),ultimately affecting grain yield and nitrogen-use efficiency(NUE).However,the underlying regulatory mechanisms on the crosstalk between ethylene-and N-regulated leaf senescence remain a mystery in maize.In this study,ethylene biosynthesis gene ZmACS7 overexpressing(OE-ZmACS7)plants were used to study the role of ethylene regulating leaf senescence in response to N deficiency,and they exhibited the premature leaf senescence accompanied by increased ethylene release,decreased chlorophyll content and F_v/F_m ratio,and accelerated chloroplast degradation.Then,we investigated the dynamics changes of transcriptome reprogramming underlying ethylene-accelerated leaf senescence in response to N deficiency.The differentially expressed genes(DEGs)involved in chlorophyll biosynthesis were significantly down-regulated,while DEGs involved in chlorophyll degradation and autophagy processes were significantly up-regulated,especially in OE-ZmACS7 plants in response to N deficiency.A gene regulatory network(GRN)was predicted during ethylene-accelerated leaf senescence in response to N deficiency.Three transcription factors(TFs)ZmHSF4,Zmb HLH106,and ZmEREB147 were identified as the key regulatory genes,which targeted chlorophyll biosynthesis gene ZmLES22,chlorophyll degradation gene ZmNYC1,and autophagy-related gene ZmATG5,respectively.Furthermore,ethylene signaling key genes might be located upstream of these TFs,generating the signaling cascade networks during ethylene-accelerated leaf senescence in response to N deficiency.Collectively,these findings improve our molecular knowledge of ethylene-accelerated maize leaf senescence in response to N deficiency,which is promising to improve NUE by manipulating the progress of leaf senescence in maize.
基金the Iowa Soybean Association, USA through the ISA On-Farm NetworkTM and Watershed Programming.
文摘Many studies have shown that chlorophyll meter readings (CMRs) can be used to diagnose deficiencies of nitrogen (N) during the growth of corn (Zea mays L.) in small-plot trials, but there is need to address additional problems encountered when diagnoses are made in fields of the size managed in production agriculture. A noteworthy difference between smallplot trials and production agriculture is the extent to which the effects of N are confounded with the effects of other factors such as tillage, landscape, soil organic matter and moisture content. We illustrate how some of these factors can cause differences in the physiological age of plants and introduce errors in the diagnoses of N deficiencies. We suggest methods (measuring the height to the youngest leaf collar and assigning leaf numbers by using the first leaf with pubescence and the ear leaf as references to identify growth stages) for minimizing these errors. The simplified method of growth stage identification can be used to select appropriate plants and leaves for making diagnoses in fields and to distinguish the effects of N from the effects of other factors that influence plant growth.
文摘<strong>Background:</strong><span style="font-family:Verdana;"> Primary Immune Deficiencies (PID) are rare, under-determined </span><span style="font-family:""><span style="font-family:Verdana;">diseases particularly in sub-Saharan Africa. The diagnosis is often suspected with uncommon clinical signs. Infections are the main diagnostic circumstances in infants. Confirmation is often difficult because some additional examinations are unavailable in many of our countries. </span><b><span style="font-family:Verdana;">Aim: </span></b><span style="font-family:Verdana;">Our aim was to share the challenge of diagnosis and treatment in PID. </span><b><span style="font-family:Verdana;">Case Presentation:</span></b><span style="font-family:Verdana;"> It is about two infants, a boy and a girl, with early several infections. Both of them presented a hypo-gammaglobulinemia and to the boy, the immuno-phenotyping lymphocyte showed a decrease</span></span><span style="font-family:Verdana;">d</span><span style="font-family:Verdana;"> level of lymphocytes CD19. We are looking for genetic confirmation but it is not easy. The treatment of these infants require</span><span style="font-family:Verdana;">s</span><span style="font-family:Verdana;"> a substitution for life of immunoglobulin w</span><span style="font-family:Verdana;">h</span><span style="font-family:Verdana;">ich </span><span style="font-family:Verdana;">is</span><span style="font-family:""><span style="font-family:Verdana;"> unavailable in our countries. </span><b><span style="font-family:Verdana;">Conclusion:</span></b><span style="font-family:Verdana;"> PID are suspected with atypical clinical signs. Confirmation genetic diagnosis is difficult in low income countries. To improve the follow up, we need to strengthen clinical-biological collaboration.</span></span>
文摘BACKGROUND Congenital transverse deficiencies are horizontal deficiencies of the long bones that occur with a reported incidence as high 0.38%.They can occur alone or represent a manifestation of a various clinical syndromes.Diagnosis has tradi-tionally comprised of conventional radiography and prenatal imaging studies.There has been much advancement regarding prenatal imaging modalities to allow for early diagnosis and appropriate treatment.AIM To summarize the current state of knowledge on congenital transverse limb deficiencies and to provide an update regarding the radiographic evaluation of congenital transverse limb deficiencies.METHODS This IRB-exempt scoping review followed the PRISMA-ScR checklist for scoping reviews strictly.Five search engines were searched for a total of 265 publications.Four authors reviewed these during the screening process.Of these,51 studies were included in our article.Prenatal magnetic resonance imaging(MRI),3D Ultrasound,and multidetector Computed tomography(CT)exist are emerging modalities that have the potential to improve diagnosis.RESULTS Use of the appropriate classification system,three-dimensional ultrasonography with a maximum intensity projection,and appropriate use of prenatal MRI and prenatal CT can improve diagnosis and inter-provider communication.CONCLUSION Further scholarly efforts are required to develop improve standardized guidelines regarding the pre-natal radiographic evaluation of congenital limb deficiencies.
文摘Many prior research findings indicate that audit quality differs between the Big 4 and non-Big 4 audit firms using an indicator variable. However, most previous research focuses on only outcome measures, such as audit fees, going concern reports, and non-audit services. This study investigates audit quality differentiation between the Big 4 and non-Big 4 audit firms hypothesis from an audit objective point of view. One of the material objectives of Japanese internal control audit institutions is to facilitate assessment and improvement of internal controls by corporations themselves. The findings of this study indicate that the Big 4 audit firms accomplish this objective better than non-Big 4 audit firms. Consequently, most Big 4 clients do not disclose significant deficiencies (SDs), implying that they improve the quality of internal controls through internal controls auditing. This paper concludes that Big 4 firms produce a higher audit quality level than non-Big 4 firms, and this quality difference iS related to how an audit objective is interpreted and implemented.
文摘Iron deficiency anemia(IDA)continues to be a global public health problem.Oral iron is the universally accepted first-line therapy,and most children have a prompt and favorable response to oral formulations.In subsets of children who fail to respond due to intolerance,poor adherence,or inadequate intestinal absorption,parenteral iron is indicated.Despite numerous studies in adults with IDA of diverse etiologies,pediatric studies on parenteral iron use are very limited.Although mostly retrospective and small,these studies have documented the efficacy and safety profile of intravenous iron formulations.In this editorial the author comments on the most important published data and underscores the need to seriously consider parenteral iron use in children unresponsive to oral therapy.
文摘Prekallikrein deficiency is a disorder that often remains undiagnosed. Prekallikrein activates factor XII, which initiates the intrinsic coagulation pathway. Prekallikrein deficiency results in prolonged Partial Thromboplastin Time and Activated Clotting Time in absence of anticoagulants or active bleeding. This case report describes the anesthesia management of a patient with Prekallikrein deficiency who underwent cardiac surgery with Cardiopulmonary Bypass for correction of a congenital cardiac malformation. We highlight the importance of understanding the different tests available for the diagnosis of coagulation factors deficiency during administration of heparin in the setting of cardiovascular procedures under general anesthesia.
文摘Primary Budd-Chiari syndrome (BCS) is a spontaneously fatal disease characterized by an obstruction of the hepatic venous outflow tract due to thrombosis or a primary disease of the venous wall. The primary form of BCS is extremely rare. This is a disease mainly affecting young adults of both sexes. Clinical manifestations are variable;they can be asymptomatic, acute, or subacute but mostly chronic. Several causes have been identified, such as myeloproliferative syndrome, antiphospholipid syndrome, paroxysmal nocturnal hemoglobinuria, and inherited thrombotic disorders. Data on primary BCS in Sub-Saharan Africa is rare as most publications available are case reports. In these reports, the causes are unknown with poor prognosis in most cases often leading to patient death. We herein present a case report of a male patient diagnosed with a primary BCS at Yaoundé General Hospital (Cameroon) caused by a Protein C deficiency who presented with ascites decompensating liver cirrhosis. Treatment was based on anticoagulants, diuretics and laxatives administration. Two years after the diagnosis, the patient is alive with clinical and paraclinical improvement.
文摘Objective To examine the clinical phenotype and genetic deficiencies present in Chinese aniridia families with PAX6 haplotype deficiency.Methods A comprehensive questionnaire and ophthalmological assessments were administered to both affected patients and unaffected relatives.The clinical feature analysis included the evaluation of visual acuity,intraocular pressure,slit-lamp anterior segment examination,fundus photography,and spectral domain optical coherence tomography.To identify the mutation responsible for aniridia,targeted next-generation sequencing was used as a beneficial technique.Results A total of 4 mutations were identified,consisting of two novel frameshift mutations(c.314delA,p.K105Sfs*33 and c.838_845dup AACACACC,p.S283Tfs*85),along with two recurring nonsense mutations(c.307C>T,p.R103X and c.619A>T,p.K207*).Complete iris absence,macular foveal hypoplasia,and nystagmus were consistent in these PAX6 haplotype-deficient Chinese aniridia families,while corneal lesions,cataracts,and glaucoma exhibited heterogeneity both among the families and within the same family.Conclusion In our study,two novel PAX6 mutations associated with aniridia were identified in Chinese families,which expanded the phenotypic and genotypic spectrum of PAX6 mutations.We also analyzed the clinical characteristics of PAX6 haplotype deficiency in Chinese aniridia families.