Fibrous Hamartoma of Infancy is a benign subdermal tumor most commonly presenting at the proximal appendages. Here we present a case of Fibrous Hamatoma of Infancy at the hand with discussion of its challenging excisi...Fibrous Hamartoma of Infancy is a benign subdermal tumor most commonly presenting at the proximal appendages. Here we present a case of Fibrous Hamatoma of Infancy at the hand with discussion of its challenging excision and post-operative complications. This case highlights the delicate and challenging nature of pediatric hand surgery.展开更多
Melanotic neuroectodermal tumor of infancy (MNTI) is a rare benign, locally invasive neoplasm afflicting the infant more often in the craniofacial region. The current understanding is that this tumor’s origin is neur...Melanotic neuroectodermal tumor of infancy (MNTI) is a rare benign, locally invasive neoplasm afflicting the infant more often in the craniofacial region. The current understanding is that this tumor’s origin is neural crest cells. The typical presentation is that a rapidly growing non-ulcerated anterior maxillary mass occurs in an infant usually less than six months old. This tumor may involve other areas including the ovaries, epididymis, femur, mandible, and brain. We present that an 8-month-old infant with a maxillary lesion of MNTI appeared encapsulated, which is a hitherto unreported feature. Investigations leading to the diagnosis and the management of the case are also presented. The need to report cases of this rare entity cannot be overemphasized as this will go a long way in adding new knowledge about its biological nature.展开更多
Acute lymphoblastic leukemia/lymphoma is a highly aggressive neoplasm of precursor lymphoid (blast) cells. There are 2 main subtypes based on lymphoid lineage;B lymphoblastic leukemia/lymphoma (B-ALL/LBL) and T lympho...Acute lymphoblastic leukemia/lymphoma is a highly aggressive neoplasm of precursor lymphoid (blast) cells. There are 2 main subtypes based on lymphoid lineage;B lymphoblastic leukemia/lymphoma (B-ALL/LBL) and T lymphoblastic leukemia/lymphoma (T-ALL/LBL). B-ALL/LBL commonly presents with fever, fatigue, bone or joint pain, bleeding or anorexia (signs of bone marrow infiltration), lymphadenopathy, hepatosplenomegaly, involvement of skin, soft tissue and testes, with a predilection for the central nervous system. Immature cell markers, such as CD34 and TdT, can help to differentiate lymphoblasts from Burkitt lymphoma which, is considered a mature high-grade B cell lymphoma that mimics lymphoblastic lymphoma/leukemia. Unfavorable prognostic factors include: infancy and adult age of diagnosis, high white blood cell count, slow response to initial therapy, central nervous system involvement at the time of diagnosis and Minimal residual disease after therapy. We present a case report of a 4 months old infant seen at a Tertiary Hospital with a rare presentation of CD34 Negative B-lymphoblastic leukemia/lymphoma presenting as cutaneous lesions in infancy.展开更多
ON October 1, 2019, the People’s Republic of China (PRC) ushers in the 70th anniversary of its founding. Over the past 70 diployears, the PRC has developed from the state of poverty and emptiness in 1949 to being the...ON October 1, 2019, the People’s Republic of China (PRC) ushers in the 70th anniversary of its founding. Over the past 70 diployears, the PRC has developed from the state of poverty and emptiness in 1949 to being the second largest economy in the world which is flourishing with a strong national identity.展开更多
Background Hypogammaglobulinemia is common in infant humoral immunodeficiencies and has complicated causes and outcomes. We aimed to determine the clinical manifestations, immunological changes and outcomes of Shangha...Background Hypogammaglobulinemia is common in infant humoral immunodeficiencies and has complicated causes and outcomes. We aimed to determine the clinical manifestations, immunological changes and outcomes of Shanghai infants with hypogammaglobulinemia. Methods Patients under 2 years old, having one or more warning signs of primary immunodeficiency disorders, serum immunoglobulin levels below the lower limit of reference range per age, and with normal numbers for lymphocyte subsets were analyzed and followed up for 2 to 3 years. Results A total of 91 children (male-to-female ratio: 2.25: 1) participated in the study. Initial clinical presentation was recurrent upper respiratory tract infection (46%), invasive infection (3%), atopic disease (32%). IgA reduction (77%) was prevalent; 34% patients had more than one isotype reduced. During follow-up, 51 of 62 patients (82.25%) had immunoglobulins normalized at the age between 12-48 months; these were diagnosed as transient hypogammaglobulinemia of infancy (THI). Long-term follow-up may reveal a diagnosis for the remaining 11 infants with persistent lower Jmmunoglobulin levels, who did not have antibody titers measured. Earlier onset was correlated with higher rates of normalization. More patients were diagnosed with isolated hypogammaglobulinemia in 2006 compared with the previous 4 years (2002-2005). Conclusions The awareness of immunodeficiency among pediatricians has been greatly improved. Recurrent otitis media was not a major infection in our patients. THI is a relatively common condition associated with infant hypogammaglobulinemia. In the absence of specific antibody titers, the diagnosis of THI can be confirmed retrospectively with Ig levels normalized in follow-up visits. Therefore, long-term follow-up and frequent re-evaluation of these patients are necessary to distinguish them from true primary immunodeficiency.展开更多
Background:Anti-neutrophil antibodies are a wellrecognized cause of neutropenia,producing a potential increase in risk of infection:in the majority of patients antibodies react against antigens located on the IgG Fc r...Background:Anti-neutrophil antibodies are a wellrecognized cause of neutropenia,producing a potential increase in risk of infection:in the majority of patients antibodies react against antigens located on the IgG Fc receptor type 3b(FcRIIIb),but other target antigens have been identified.Data sources:In this review the most important papers of auto and alloimmune neutropenias of infancy and childhood were analyzed.PubMed,Google Scholar and Thompson ISI Web of Knowledge were searched for identifying relevant papers.Results:Primary autoimmune neutropenia of infancy is mostly a benign condition with self-limited course,whereas isolated alloimmune neonatal neutropenia or secondary autoimmune neutropenia may be occasionally complicated by severe infections.Conclusion:Granulocyte colony stimulating factor is an effective therapy for patients affected by all types of autoimmune and alloimmune neutropenia,even though most of them do not need any therapy.展开更多
AIM To study the role of cholecystokinin octapeptide ( CCK-8), β-endorphin ( β-EP), and gastrin in an anorexic infantile rat model and no subsequent regulation of nose peptides by the Yunpi complex prescription ErB...AIM To study the role of cholecystokinin octapeptide ( CCK-8), β-endorphin ( β-EP), and gastrin in an anorexic infantile rat model and no subsequent regulation of nose peptides by the Yunpi complex prescription ErBao Granule.METHODS We fed infantile rats with special prepared forage. A liquid extract of ErBao Granule was administered to the rats daily for 3weeks, CCK-8, β-EP, and gastrin concentrations in hypothalamus, gastric antrum, and plasma of the rats were measured by radioimmunoassay,and were compared with controls.RESULTS Treatment of rats with ErBao Granule inhibited CCK-8 secretion and increased β-EP and gastrin secretion. CCK-8 concentration in hypothalamus and plasma of model control group increased significantly and correlated negatively with food intake of models.respectively. β-EP concentration in gastric antrum and plasma of model control group decreased significantly and showed a positive correlation with food intake of models,respectively. Hypothalamus concentration of β-EP was similar in models and controls. Gastrin concentration in gastric antrum of models was lower than in the blank control group, and correlated positively to food intake of models.Finally, CCK-8 concentrations in plasma of rats showed a positive correlation with plasma β-EP(r- 0.68, P<0.05).CONCLUSION The increased plasma and hypothalamus concentration of CCK-8,decreased gastric antrum and plasma level of β-EP. and decreased gastric antrum concentration of gastrin are associated significantly with the anorexia of infantile anorexic rat models produced by special forage. ErBao Granule can reverse these changes, which may be the major mechanisms of ErBao Granule simulating feeding.展开更多
INTRODUCTIONIncreasing data has demonstrated that Helicobacterpylori(H.pylori),a spiral gram negativebacterium,colonized in human stomach,can causetype B gastritis,is strongly associated withgastric and duodenal ulcer...INTRODUCTIONIncreasing data has demonstrated that Helicobacterpylori(H.pylori),a spiral gram negativebacterium,colonized in human stomach,can causetype B gastritis,is strongly associated withgastric and duodenal ulceration,and has beenimplicated in the causation of gastric carcinomaand mucosa-associated lymphoid tissue(MALT)lymphomas.It has been reported that there展开更多
Differential diagnosis of pediatric vascular liver tumors can be challenging due to inconsistent nomenclature,histologic overlap and the rarity of some entities.Here we give an up-to-date overview of the most importan...Differential diagnosis of pediatric vascular liver tumors can be challenging due to inconsistent nomenclature,histologic overlap and the rarity of some entities.Here we give an up-to-date overview of the most important entities.We discuss the clinic,histology and pathophysiology of hepatic congenital and infantile heman-gioma,hepatic epithelioid hemangioendothelioma and hepatic angio-sarcoma.展开更多
Ectopic mineralization- inappropriate biomineralization in soft tissues- is a frequent finding in physiological aging processes and several common disorders, which can be associated with significant morbidity and mort...Ectopic mineralization- inappropriate biomineralization in soft tissues- is a frequent finding in physiological aging processes and several common disorders, which can be associated with significant morbidity and mortality. Further, pathologic mineralization is seen in several rare genetic disorders, which often present life-threatening phenotypes. These disorders are classified based on the mechanisms through which the mineralization occurs: metastatic or dystrophic calcification or ectopic ossification. Underlying mechanisms have been extensively studied, which resulted in several hypotheses regarding the etiology of mineralization in the extracellular matrix of soft tissue. These hypotheses include intracellular and extracellular mechanisms, such as the formation of matrix vesicles, aberrant osteogenic and chondrogenic signaling, apoptosis and oxidative stress. Though coherence between the different findings is not always clear, current insights have led to improvement of the diagnosis and management of ectopic mineralization patients, thus translating pathogenetic knowledge(variome) to the phenotype(phenome). In this review, we will focus on the clinical presentation, pathogenesis and management of primary genetic soft tissue mineralization disorders. As examples of dystrophic calcification disorders Pseudoxanthoma elasticum, Generalized arterial calcification of infancy, Keutel syndrome, Idiopathic basal ganglia calcification and Arterial calcification due to CD73(NT5E) deficiency will be discussed. Hyperphosphatemic familial tumoral calcinosis will be reviewed as an example of mineralization disorders caused by metastatic calcification.展开更多
From the standpoint of evolution, caring for old parents may be maladaptive, because they have ceased reproduction, so that the benefit for inclusive fitness may not be expected. Then why do we care for old parents? I...From the standpoint of evolution, caring for old parents may be maladaptive, because they have ceased reproduction, so that the benefit for inclusive fitness may not be expected. Then why do we care for old parents? In this study, the evolution of care for the elderly was examined, by using an evolutionary genetic model, in which pleiotropic constraints between behaviors expressed in different social contexts among family members were assumed. It was suggested that establishing a solid relationship with parents during infancy should be selectively favorable, even though old parents have to be cared for in the future, but that caring for old parents may be excluded from the population if this behavior imposes high costs on reproduction of the younger generation. Despite the diminishing numbers of individuals within the population, care for the elderly may not be readily selected against, but at the same time this may not contribute to the rate of increase in population size. The significance of discussing the behavior of elderly caring from the standpoint of evolutionary genetics was emphasized.展开更多
The developmental maturity (M) scale using the Star-Wave Test that was independently developed by Yalon and Zion indicates poor learning abilities if the M-scale score is low, which may be caused by developmental dela...The developmental maturity (M) scale using the Star-Wave Test that was independently developed by Yalon and Zion indicates poor learning abilities if the M-scale score is low, which may be caused by developmental delays, such as intellectual disability and learning disorder or organic mental disorder. Furthermore, the distress (D) scale is thought to be influenced by mild neurological disorders, hand coordination problems, and environmental factors. In this study, we conducted a Star-Wave Test on 44 nursery school children in Japan and examined the M scale, the D scale, as well as the level of stress induced by coordination problems and the environment. The t-test was conducted on the M scale and D scale of the group without coordination problems and that with coordination problems, and we found a significant difference at 1% level. From this result, we can confirm the relationship of the M scale and the D scale with Visual and motor maturity.展开更多
Motor development at late preterm infants has significant importance as it composes the picture of the severe evidences of motor impairments or other developmental difficulties. Early detection is crucial as early int...Motor development at late preterm infants has significant importance as it composes the picture of the severe evidences of motor impairments or other developmental difficulties. Early detection is crucial as early intervention is the unique immediate solution option to catch up the developmental milestones. Method: Α systematic search for scientific articles of the decade 2010-2020 investigating the motor profile of late preterm infants was conducted. Results: The search identified 9 studies, many of which highlighted the risk of motor and developmental delays even at 36 months of age. Conclusions: The stability of motor and developmental delays indicates the need of further investigation at a later age and intervention to avoid possible academic difficulties.展开更多
In this study, we aimed to examine the electrophysio- logical properties of β-cells in Kir6.2-/- mice using fresh pancreatic tissue slice preparation. This prepa-ration is advantageous since it preserves socio-cellul...In this study, we aimed to examine the electrophysio- logical properties of β-cells in Kir6.2-/- mice using fresh pancreatic tissue slice preparation. This prepa-ration is advantageous since it preserves socio-cellular context of the β-cells. Using this novel approach we revisited basic morphology and used whole-cell patch-clamp to study electrical excitability as well as to assess the modulation of the late steps of the exocy-totic activity of β-cells by cytosolic [Ca2+] changes in control and Kir6.2-/- mice. We found that young Kir6.2-/- mice (2 - 4 weeks old) were hypoglycaemic while aged Kir6.2-/- mice (5 - 60 weeks old) were normo- or even hyper- glycaemic. Membrane ca-pacitance measurements show- ed more efficient Ca2+-secretion coupling in young Kir6.2-/- mice, but this coupling is significantly reduced in older Kir6.2-/- mice. We have found increased exo- cytotic efficacy induced by repetitive trains of depo- larization pulses which may result from higher cyto- solic [Ca2+] due to hyperexcitability in Kir6.2-/- mice. This condition in turn resulted in the reduced β-cell number and func-tion in the following weeks. Detailed assessment of the efficacy of Ca2+ dependent exocyto- sis in β-cell from Kir6.2-/- mice may contribute to our understanding of the pathophysiology of persistent hyperinsulinemia hypoglycemia of infancy (PHHI) and suggest potential alternative therapeutic approaches for PHHI patients.展开更多
Background Nerve growth factor (NGF) is well-known for its important role in the development and maintenance of the nervous system.Along with its neurotrophic role,NGF has been detected in the testis of mouse,rat an...Background Nerve growth factor (NGF) is well-known for its important role in the development and maintenance of the nervous system.Along with its neurotrophic role,NGF has been detected in the testis of mouse,rat and human,suggesting an additional non-neurotrophic effect in the male reproductive system.The expression of β-NGF in the undescended testes (cryptorchidism) has not been detected at present.The aim of this study was to evaluate the expression of β-nerve growth factor mRNA and protein in experimental cryptorchidism.Methods A unilateral mechanical cryptorchidism model in the Sprague-Dawley rat was established and the expression of β-NGF with histologic changes in experimental cryptorchidism were investigated using one step quantitative real-time reverse transcription-polymerase chain reaction,in situ hybridization histochemistry,immunofluorescence and hematoxylin-eosin staining.Results The expression of β-NGF mRNA and protein were both significantly decreased in the development of unmarred testis and cryptorchidism-induced testis,and the decrease of β-NGF in cryptorchidism-induced testis was far greater than that in uninjured testis.Conclusion From this investigation,we confirmed a lower expression of β-NGF in undescended testes than in the development of testis.展开更多
Objectives::To investigate the prevalence of ACADM pathogenic variants, c.985A>G and c.199T>C, for medium chain acyl CoA dehydrogenase deficiency (MCADD) in a healthy population in the southern region of Brazil....Objectives::To investigate the prevalence of ACADM pathogenic variants, c.985A>G and c.199T>C, for medium chain acyl CoA dehydrogenase deficiency (MCADD) in a healthy population in the southern region of Brazil. Methods::This was an observational cross-sectional study with a convenience sampling strategy. The participants were recruited from the blood bank of the Hospital de Clínicas of Porto Alegre, Brazil. A total of 1000 healthy individuals from the state of Rio Grande do Sul were included. Genotyping for the c.199T>C and c.985A>G variants was performed using real-time polymerase chain reaction (PCR) and the PCR-restriction fragment length polymorphism (RFLP) technique, respectively. Individuals considered heterozygous for c.985A>G were subjected to additional acylcarnitine profile analysis using tandem mass spectrometry. Carrier frequency was obtained by calculating the ratio of heterozygous individuals to the total number of individuals analyzed and reported with a 95% confidence interval. Allele and genotype frequencies were calculated based on the Hardy-Weinberg equilibrium.Results::The c.985A>G variant was detected as heterozygotes in three individuals (frequency of the heterozygous genotype = 1:333, allele frequency= 0.0015, minimum frequency of MCADD= 1:444,444) whose acylcarnitine profiles were within normal limits. The c.199T>C variant was not identified.Conclusions::Considering the small sample size and associated allelic heterogeneity with MCADD, these findings are believed to denote the rarity or underdiagnosis of MCADD in southern Brazil. This study provides evidence for the need for further investigation to ascertain the contribution of these diseases to child morbidity and mortality in the country.展开更多
文摘Fibrous Hamartoma of Infancy is a benign subdermal tumor most commonly presenting at the proximal appendages. Here we present a case of Fibrous Hamatoma of Infancy at the hand with discussion of its challenging excision and post-operative complications. This case highlights the delicate and challenging nature of pediatric hand surgery.
文摘Melanotic neuroectodermal tumor of infancy (MNTI) is a rare benign, locally invasive neoplasm afflicting the infant more often in the craniofacial region. The current understanding is that this tumor’s origin is neural crest cells. The typical presentation is that a rapidly growing non-ulcerated anterior maxillary mass occurs in an infant usually less than six months old. This tumor may involve other areas including the ovaries, epididymis, femur, mandible, and brain. We present that an 8-month-old infant with a maxillary lesion of MNTI appeared encapsulated, which is a hitherto unreported feature. Investigations leading to the diagnosis and the management of the case are also presented. The need to report cases of this rare entity cannot be overemphasized as this will go a long way in adding new knowledge about its biological nature.
文摘Acute lymphoblastic leukemia/lymphoma is a highly aggressive neoplasm of precursor lymphoid (blast) cells. There are 2 main subtypes based on lymphoid lineage;B lymphoblastic leukemia/lymphoma (B-ALL/LBL) and T lymphoblastic leukemia/lymphoma (T-ALL/LBL). B-ALL/LBL commonly presents with fever, fatigue, bone or joint pain, bleeding or anorexia (signs of bone marrow infiltration), lymphadenopathy, hepatosplenomegaly, involvement of skin, soft tissue and testes, with a predilection for the central nervous system. Immature cell markers, such as CD34 and TdT, can help to differentiate lymphoblasts from Burkitt lymphoma which, is considered a mature high-grade B cell lymphoma that mimics lymphoblastic lymphoma/leukemia. Unfavorable prognostic factors include: infancy and adult age of diagnosis, high white blood cell count, slow response to initial therapy, central nervous system involvement at the time of diagnosis and Minimal residual disease after therapy. We present a case report of a 4 months old infant seen at a Tertiary Hospital with a rare presentation of CD34 Negative B-lymphoblastic leukemia/lymphoma presenting as cutaneous lesions in infancy.
文摘ON October 1, 2019, the People’s Republic of China (PRC) ushers in the 70th anniversary of its founding. Over the past 70 diployears, the PRC has developed from the state of poverty and emptiness in 1949 to being the second largest economy in the world which is flourishing with a strong national identity.
文摘Background Hypogammaglobulinemia is common in infant humoral immunodeficiencies and has complicated causes and outcomes. We aimed to determine the clinical manifestations, immunological changes and outcomes of Shanghai infants with hypogammaglobulinemia. Methods Patients under 2 years old, having one or more warning signs of primary immunodeficiency disorders, serum immunoglobulin levels below the lower limit of reference range per age, and with normal numbers for lymphocyte subsets were analyzed and followed up for 2 to 3 years. Results A total of 91 children (male-to-female ratio: 2.25: 1) participated in the study. Initial clinical presentation was recurrent upper respiratory tract infection (46%), invasive infection (3%), atopic disease (32%). IgA reduction (77%) was prevalent; 34% patients had more than one isotype reduced. During follow-up, 51 of 62 patients (82.25%) had immunoglobulins normalized at the age between 12-48 months; these were diagnosed as transient hypogammaglobulinemia of infancy (THI). Long-term follow-up may reveal a diagnosis for the remaining 11 infants with persistent lower Jmmunoglobulin levels, who did not have antibody titers measured. Earlier onset was correlated with higher rates of normalization. More patients were diagnosed with isolated hypogammaglobulinemia in 2006 compared with the previous 4 years (2002-2005). Conclusions The awareness of immunodeficiency among pediatricians has been greatly improved. Recurrent otitis media was not a major infection in our patients. THI is a relatively common condition associated with infant hypogammaglobulinemia. In the absence of specific antibody titers, the diagnosis of THI can be confirmed retrospectively with Ig levels normalized in follow-up visits. Therefore, long-term follow-up and frequent re-evaluation of these patients are necessary to distinguish them from true primary immunodeficiency.
文摘Background:Anti-neutrophil antibodies are a wellrecognized cause of neutropenia,producing a potential increase in risk of infection:in the majority of patients antibodies react against antigens located on the IgG Fc receptor type 3b(FcRIIIb),but other target antigens have been identified.Data sources:In this review the most important papers of auto and alloimmune neutropenias of infancy and childhood were analyzed.PubMed,Google Scholar and Thompson ISI Web of Knowledge were searched for identifying relevant papers.Results:Primary autoimmune neutropenia of infancy is mostly a benign condition with self-limited course,whereas isolated alloimmune neonatal neutropenia or secondary autoimmune neutropenia may be occasionally complicated by severe infections.Conclusion:Granulocyte colony stimulating factor is an effective therapy for patients affected by all types of autoimmune and alloimmune neutropenia,even though most of them do not need any therapy.
基金Project supported by the National Natural Science Foundation of China,No.39670896
文摘AIM To study the role of cholecystokinin octapeptide ( CCK-8), β-endorphin ( β-EP), and gastrin in an anorexic infantile rat model and no subsequent regulation of nose peptides by the Yunpi complex prescription ErBao Granule.METHODS We fed infantile rats with special prepared forage. A liquid extract of ErBao Granule was administered to the rats daily for 3weeks, CCK-8, β-EP, and gastrin concentrations in hypothalamus, gastric antrum, and plasma of the rats were measured by radioimmunoassay,and were compared with controls.RESULTS Treatment of rats with ErBao Granule inhibited CCK-8 secretion and increased β-EP and gastrin secretion. CCK-8 concentration in hypothalamus and plasma of model control group increased significantly and correlated negatively with food intake of models.respectively. β-EP concentration in gastric antrum and plasma of model control group decreased significantly and showed a positive correlation with food intake of models,respectively. Hypothalamus concentration of β-EP was similar in models and controls. Gastrin concentration in gastric antrum of models was lower than in the blank control group, and correlated positively to food intake of models.Finally, CCK-8 concentrations in plasma of rats showed a positive correlation with plasma β-EP(r- 0.68, P<0.05).CONCLUSION The increased plasma and hypothalamus concentration of CCK-8,decreased gastric antrum and plasma level of β-EP. and decreased gastric antrum concentration of gastrin are associated significantly with the anorexia of infantile anorexic rat models produced by special forage. ErBao Granule can reverse these changes, which may be the major mechanisms of ErBao Granule simulating feeding.
文摘INTRODUCTIONIncreasing data has demonstrated that Helicobacterpylori(H.pylori),a spiral gram negativebacterium,colonized in human stomach,can causetype B gastritis,is strongly associated withgastric and duodenal ulceration,and has beenimplicated in the causation of gastric carcinomaand mucosa-associated lymphoid tissue(MALT)lymphomas.It has been reported that there
文摘Differential diagnosis of pediatric vascular liver tumors can be challenging due to inconsistent nomenclature,histologic overlap and the rarity of some entities.Here we give an up-to-date overview of the most important entities.We discuss the clinic,histology and pathophysiology of hepatic congenital and infantile heman-gioma,hepatic epithelioid hemangioendothelioma and hepatic angio-sarcoma.
基金Supported by The Research Foundation Flanders(FWO)(FWO14/ASP/084),Vanakker OM is a senior clinical investigator at the Fund for Scientific Research-FlandersContract grant sponsor:FWO grant No G.0241.11NMethusalem grant No.08/01M01108
文摘Ectopic mineralization- inappropriate biomineralization in soft tissues- is a frequent finding in physiological aging processes and several common disorders, which can be associated with significant morbidity and mortality. Further, pathologic mineralization is seen in several rare genetic disorders, which often present life-threatening phenotypes. These disorders are classified based on the mechanisms through which the mineralization occurs: metastatic or dystrophic calcification or ectopic ossification. Underlying mechanisms have been extensively studied, which resulted in several hypotheses regarding the etiology of mineralization in the extracellular matrix of soft tissue. These hypotheses include intracellular and extracellular mechanisms, such as the formation of matrix vesicles, aberrant osteogenic and chondrogenic signaling, apoptosis and oxidative stress. Though coherence between the different findings is not always clear, current insights have led to improvement of the diagnosis and management of ectopic mineralization patients, thus translating pathogenetic knowledge(variome) to the phenotype(phenome). In this review, we will focus on the clinical presentation, pathogenesis and management of primary genetic soft tissue mineralization disorders. As examples of dystrophic calcification disorders Pseudoxanthoma elasticum, Generalized arterial calcification of infancy, Keutel syndrome, Idiopathic basal ganglia calcification and Arterial calcification due to CD73(NT5E) deficiency will be discussed. Hyperphosphatemic familial tumoral calcinosis will be reviewed as an example of mineralization disorders caused by metastatic calcification.
文摘From the standpoint of evolution, caring for old parents may be maladaptive, because they have ceased reproduction, so that the benefit for inclusive fitness may not be expected. Then why do we care for old parents? In this study, the evolution of care for the elderly was examined, by using an evolutionary genetic model, in which pleiotropic constraints between behaviors expressed in different social contexts among family members were assumed. It was suggested that establishing a solid relationship with parents during infancy should be selectively favorable, even though old parents have to be cared for in the future, but that caring for old parents may be excluded from the population if this behavior imposes high costs on reproduction of the younger generation. Despite the diminishing numbers of individuals within the population, care for the elderly may not be readily selected against, but at the same time this may not contribute to the rate of increase in population size. The significance of discussing the behavior of elderly caring from the standpoint of evolutionary genetics was emphasized.
文摘The developmental maturity (M) scale using the Star-Wave Test that was independently developed by Yalon and Zion indicates poor learning abilities if the M-scale score is low, which may be caused by developmental delays, such as intellectual disability and learning disorder or organic mental disorder. Furthermore, the distress (D) scale is thought to be influenced by mild neurological disorders, hand coordination problems, and environmental factors. In this study, we conducted a Star-Wave Test on 44 nursery school children in Japan and examined the M scale, the D scale, as well as the level of stress induced by coordination problems and the environment. The t-test was conducted on the M scale and D scale of the group without coordination problems and that with coordination problems, and we found a significant difference at 1% level. From this result, we can confirm the relationship of the M scale and the D scale with Visual and motor maturity.
文摘Motor development at late preterm infants has significant importance as it composes the picture of the severe evidences of motor impairments or other developmental difficulties. Early detection is crucial as early intervention is the unique immediate solution option to catch up the developmental milestones. Method: Α systematic search for scientific articles of the decade 2010-2020 investigating the motor profile of late preterm infants was conducted. Results: The search identified 9 studies, many of which highlighted the risk of motor and developmental delays even at 36 months of age. Conclusions: The stability of motor and developmental delays indicates the need of further investigation at a later age and intervention to avoid possible academic difficulties.
基金the Growbeta EU grant (5th framework, No. QLG1-CT-2001-02233)The European Neuroscience Institute Gottingen (ENI-G)+1 种基金 Gottingen University Medical School the Max-Planck-Society and Schering AG
文摘In this study, we aimed to examine the electrophysio- logical properties of β-cells in Kir6.2-/- mice using fresh pancreatic tissue slice preparation. This prepa-ration is advantageous since it preserves socio-cellular context of the β-cells. Using this novel approach we revisited basic morphology and used whole-cell patch-clamp to study electrical excitability as well as to assess the modulation of the late steps of the exocy-totic activity of β-cells by cytosolic [Ca2+] changes in control and Kir6.2-/- mice. We found that young Kir6.2-/- mice (2 - 4 weeks old) were hypoglycaemic while aged Kir6.2-/- mice (5 - 60 weeks old) were normo- or even hyper- glycaemic. Membrane ca-pacitance measurements show- ed more efficient Ca2+-secretion coupling in young Kir6.2-/- mice, but this coupling is significantly reduced in older Kir6.2-/- mice. We have found increased exo- cytotic efficacy induced by repetitive trains of depo- larization pulses which may result from higher cyto- solic [Ca2+] due to hyperexcitability in Kir6.2-/- mice. This condition in turn resulted in the reduced β-cell number and func-tion in the following weeks. Detailed assessment of the efficacy of Ca2+ dependent exocyto- sis in β-cell from Kir6.2-/- mice may contribute to our understanding of the pathophysiology of persistent hyperinsulinemia hypoglycemia of infancy (PHHI) and suggest potential alternative therapeutic approaches for PHHI patients.
文摘Background Nerve growth factor (NGF) is well-known for its important role in the development and maintenance of the nervous system.Along with its neurotrophic role,NGF has been detected in the testis of mouse,rat and human,suggesting an additional non-neurotrophic effect in the male reproductive system.The expression of β-NGF in the undescended testes (cryptorchidism) has not been detected at present.The aim of this study was to evaluate the expression of β-nerve growth factor mRNA and protein in experimental cryptorchidism.Methods A unilateral mechanical cryptorchidism model in the Sprague-Dawley rat was established and the expression of β-NGF with histologic changes in experimental cryptorchidism were investigated using one step quantitative real-time reverse transcription-polymerase chain reaction,in situ hybridization histochemistry,immunofluorescence and hematoxylin-eosin staining.Results The expression of β-NGF mRNA and protein were both significantly decreased in the development of unmarred testis and cryptorchidism-induced testis,and the decrease of β-NGF in cryptorchidism-induced testis was far greater than that in uninjured testis.Conclusion From this investigation,we confirmed a lower expression of β-NGF in undescended testes than in the development of testis.
基金The financial support provided by FIPE-HCPA(grant number 2017-0249),CNPq,FAPERGSthe UFRGS Graduate Program in Genetics and Molecular Biology.FSLV was funded by of a CNPq grant(no.312960/2021-2).
文摘Objectives::To investigate the prevalence of ACADM pathogenic variants, c.985A>G and c.199T>C, for medium chain acyl CoA dehydrogenase deficiency (MCADD) in a healthy population in the southern region of Brazil. Methods::This was an observational cross-sectional study with a convenience sampling strategy. The participants were recruited from the blood bank of the Hospital de Clínicas of Porto Alegre, Brazil. A total of 1000 healthy individuals from the state of Rio Grande do Sul were included. Genotyping for the c.199T>C and c.985A>G variants was performed using real-time polymerase chain reaction (PCR) and the PCR-restriction fragment length polymorphism (RFLP) technique, respectively. Individuals considered heterozygous for c.985A>G were subjected to additional acylcarnitine profile analysis using tandem mass spectrometry. Carrier frequency was obtained by calculating the ratio of heterozygous individuals to the total number of individuals analyzed and reported with a 95% confidence interval. Allele and genotype frequencies were calculated based on the Hardy-Weinberg equilibrium.Results::The c.985A>G variant was detected as heterozygotes in three individuals (frequency of the heterozygous genotype = 1:333, allele frequency= 0.0015, minimum frequency of MCADD= 1:444,444) whose acylcarnitine profiles were within normal limits. The c.199T>C variant was not identified.Conclusions::Considering the small sample size and associated allelic heterogeneity with MCADD, these findings are believed to denote the rarity or underdiagnosis of MCADD in southern Brazil. This study provides evidence for the need for further investigation to ascertain the contribution of these diseases to child morbidity and mortality in the country.