Isolated left ventricular apical hypoplasia:Systematic review and analysis of the 37 cases reported so far

BACKGROUND Isolated left ventricular apical hypoplasia(ILVAH),also known as truncated left ventricle(LV),is a very unusual cardiomyopathy.It is characterised by a truncated,spherical,and non-apex forming LV.The true apex is occupied by the right ventricle.Due to the rarity of the disease,just a few case reports and limited case series have been published in the field.AIM To analysing the so far 37 reported ILVAH cases worldwide.METHODS The electronic databases PubMed and Scopus were investigated from their establishment up to December 13,2022.RESULTS The majority of cases reported occurred in males(52.7%).Mean age at diagnosis was 26.1±19.6 years.More than a third of the patients were asymptomatic(35.1%).The most usual clinical presentation was breathlessness(40.5%).The most commonly detected electrocardiogram changes were T wave abnormalities(29.7%)and right axis deviation with poor R wave progression(24.3%).Atrial fibrillation/flutter was detected in 24.3%.Echocardiography was performed in 97.3%of cases and cardiac MRI in 91.9%of cases.Ejection fraction was reduced in more than a half of patients(56.7%).An associated congenital heart disease was found in 16.2%.Heart failure therapy was administered in 35.1%of patients.The outcome was favorable in the vast majority of patients,with just one death.CONCLUSION ILVAH is a multifaceted entity with a so far unpredictable course,ranging from benign until the elderly to sudden death during adolescence.

A Novel NR0B1 Gene Mutation Causes Different Phenotypes in Two Male Patients with Congenital Adrenal Hypoplasia

X-linked congenital adrenal hypoplasia is characterised by the acute onset of primary adrenal insufficiency in infancy or early childhood and hypogonadotropic hypogonadism(HH)at puberty,arising from mutations of the nuclear receptor subfamily 0 group B member 1(NR0B1)gene.This study investigated an extended family with two affected males(patient A:23 years and patient B:2 months old)and three carrier females.Sequencing analysis of the NR0B1 gene coding region from the family revealed a novel hemizygous deletion[c.604delT;p.(C202Afs*62)]in the two male patients.Furthermore,the patients'respective mothers and their common grandmother had this heterozygous mutation,but it was not present in the Human Gene Mutation Database.The two male patients showed inconsistent clinical features at onset,particularly in early childhood;however,it is possible that the younger patient will eventually show a delay of puberty,feminisation,and nonspermatogenesis in adulthood,similar to that in the older patient.Identification of a novel NR0BI mutation in this family is important for the diagnosis and genetic counselling of children with primary adrenal insufficiency and HH,and will be helpful for predicting long-term clinical symptoms.

Classification of congenital thumb hypoplasia and deformity

Background:Congenital thumb deformities account for one-third or more of all cases of congenital hand deformity.However,the current classification schemes of congenital thumb hypoplasia are no longer adequate due to their lack of adaptability to increasing knowledge in the field.Hence,a modified system with the potential to adapt to ongoing advances in knowledge and understanding is desperately needed.Methods:Based on the photographs collected from thousands of cases of congenital deformities of the hand and upper limb over multiple decades in our department,we subdivided thumb hypoplasia according to the variables of morphological characteristics,anatomical structures,functional status,the relationship between thumb deformity and hand deformity,the relationship between congenital hand deformity syndrome and thumb hypoplasia,and the selection of treatment methods.Results:A total of 10 types were presented,which were elucidated with nomenclatures as well as pathological feature and symptoms.Conclusion:This modified system may shed additional light on the classification of congenital thumb anomalies,which will assist in a more effective selection of treatment modalities and offers significant benefits to both patients and practice.

Esophageal squamous papillomas with focal dermal hypoplasia and eosinophilic esophagitis

Focal dermal hypoplasia(FDH) is a rare disorder of the mesodermal and ectodermal tissues. Here we present an eight-year-old female known to have FDH who presents with poor weight gain and dysphagia. She was diagnosed with multiple esophageal papillomas and eosinophilic esophagitis. She was successfully treated with argon plasma coagulation and ingested fluticasone propionate, which has not been described previously in a child.

The Use of Transcatheter Laser Exposure in the Treatment of Cerebral Vessels Hypoplasia Accompanied by Migraine

The research is dedicated to the possibility of restoring cerebral blood supply in patients with brain vessels hypoplasia accompanied by migraine. The research involved 67 patients aged 29 - 58 (average age 42) with severe migraine. The examination plan included laboratory diagnostics, assessment of dementia severity (CDR), assessment of cognitive impairment (MMSE), cerebral computed tomography (CT), cerebral magnetic resonance imaging (MRI), cerebral scintigraphy (SG), rheoencephalography (REG), cerebral multi-gated angiography (MUGA). Hypoplasia symptoms were detected in 56 (83.58%) patients. To improve cerebral blood supply, the method of transcateter laser revascularization by means of low-energy CW lasers was used. Good immediate angiographic outcome manifested in persistent improvement of the intracranial vascular bed and marked collateral vascularization was obtained in 53 (94.64%) patients. Good clinical outcome— almost complete regression of migraine and vestibular disorders—was obtained in 49 (87.50%) patients. Satisfactory clinical outcome—partial regression of migraine and vestibular disorders— was observed in 7 (12.50%) patients. The method of transcatheter laser revascularization of cerebral vessels is a physiological, effective and low-invasive treatment for patients suffering from cerebral vessels hypoplasia accompanied by migraine. This method has virtually no alternative;it stimulates natural angiogenesis causing collateral and capillary vascularization steadily improving the blood supply of the brain. The effect obtained after the treatment persists for a long time (9 years and longer), it causes regression of migraine, reduces mental disorders, and can improve the patients’ quality of life.

Ipsilateral hemifacial microsomia with dextrocardia and pulmonary hypoplasia:A case report

BACKGROUND Hemifacial microsomia(HFM)is a rare congenital malformation characterized by a combination of various anomalies,including the face,ears,eyes,and vertebrae.Prenatal diagnosis for HFM is possible,and quite accurate ultrasound can detect obvious defects.The etiology is still unknown,although some hypotheses have been proposed,including gene mutation,chromosome anomaly,and environmental risk factors.However,there are few reports of pulmonary hypoplasia and dextrocardia in HFM.CASE SUMMARY A 2-year-old boy presented to the ear reconstruction department of our hospital complaining of deviation of the face to the right side and auricular anomaly.Physical examination revealed facial asymmetry,preauricular skin tags,and concha-type microtia with stricture of the external auditory canal on the right side.Head magnetic resonance imaging showed bilateral semicircular canal dysplasia and bilateral internal auditory canals stenosis.Audiometric examination showed bilateral severe sensorineural hearing loss.Chest radiography and computed tomography showed dextrocardia and right pulmonary hypoplasia.CONCLUSION This case presented a rare finding and an unusual association of 3 malformations,ipsilateral HFM,pulmonary agenesis,and dextrocardia.

Orthodontic-surgical treatment of an Angle Class Ⅱ malocclusion patient with mandibular hypoplasia and missing maxillary first molars: A case report

BACKGROUND Adult patients presenting with Angle Class II division 1 malocclusions that have a strong skeletal etiology can be challenging for clinicians,particularly if accompanied by retrognathia of the mandible and a dolichofacial growth pattern.CASE SUMMARY In this case report,we describe the successful orthodontic and surgical management of a 20-year-old woman with an Angle Class II malocclusion with a severe anteroposterior skeletal discrepancy characterized by mandibular deficiency.She had incompetent lips,dental and skeletal Class II malocclusion,high mandibular plane angle,mild mandibular crowding,and two missing maxillary first molars.The treatment plan comprised:(1)Extraction of two mandibular second premolars to decompensate and retract mandibular incisors;(2)pre-surgical alignment,leveling,and space closure of the teeth in both arches,and protraction of the second maxillary molars to close the maxillary space;(3)surgical treatment including a LeFort I osteotomy for maxillary retraction and rotation,a bilateral sagittal split osteotomy for mandibular advancement and rotation,and a genioplasty for correctting the skeletal deformities;and(4)post-surgical correction of the malocclusion.CONCLUSION The patient’s facial esthetics was significantly improved and a desirable occlusion was achieved after 16 mo treatment.Follow-up records after 2 years showed stable esthetics and function.

A protocol used to manage maxillary hypoplasia in cleft lip and palate patients

Objectives: We report our experience and the protocol we used in managing maxillary hypoplasia in cleft lip and palate patients. Patients and methods: 14 adult cleft lip and palate patients with maxillary hypoplasia were evaluated clinically. Dental models and radiographs including (lateral cephalograms and orthopantographs) were obtained at the initial visit and upon completion of the presurgical orthodontic treatment. Patients with occlusal discrepancies larger than 6 mm and severe palatal scaring underwent Distraction osteogenesis (DO) to advance the maxilla. Patients with an occlusal discrepancy of 6 mm or less, underwent traditional orthognathic surgery including le fort I advancement and Bilateral sagittal split osteotomy (BSSO) to seat the mandible in occlusion. Results: Five patients underwent orthognathic surgery. Two of them underwent double jaw surgery. Three underwent single jaw conventional le fort l advancement. Four patients required bone grafting to repair the residual alveolar defect and to augment the midface deficiency. Nine patients with severe maxillary hypoplasia underwent maxillary advancement using distraction osteogenesis. Conclusion: Patients with a severe maxillary hypoplasia of 6 mm or more and excessive palatal scaring are successfully treated with DO. Conventional le fort I is reserved for patients with less severe maxillary hypoplasia. Both techniques gave promising results providing having followed the proper selection criteria.

Central Brain Herniation Secondary to Influenza-Related Encephalopathy in a Pontocerebellar Hypoplasia Child: A Case Report and Review

Influenza-associated encephalopathy (IAE) can perform as varying patterns of neuroimaging. Central brain herniation (CBH) secondary to IAE is rare;it may be a bad prognosis. Here, we presented a 4-year-old girl with influenza who had a pontocerebellar hypoplasia (PCH) history;she performed the second Magnetic Resonance Imaging (MRI) on Day 6 from onset, showed the diffuse edema and the occurrence of central herniation;the medulla was “Z-like” folded and the basal cisterns were obliterated completely. Finally she was declared dead. The imbalance between supratentorial and infratentorial pressure can lead to the occurrence of CBH. Severe edema relates to IAE and unstable structure of the posterior fossa might be the main reason for the herniation. MRI is helpful in early diagnosis. Early treatment of cerebral edema in patients with congenital abnormalities of the posterior fossa is vital for their management.

Unilateral ovarian hypoplasia—A report of two cases

Unilateral ovarian hypoplasia is a rare event with unknown true incidence. Our knowledge about this developmental anomaly is limited and based primarily on case reports. Ovarian hypoplasia is usually asymptomatic;it is most commonly diagnosed from laparoscopy for other indications. Here we report two cases of unilateral ovarian hypoplasia in patients who presented to the Continuum Reproductive Center with primary infertility. After initial infertility workup, both patients underwent diagnostic laparoscopy for suspected tubal disease. In each case, operative findings were consistent with unilateral ovarian hypoplasia. Following the surgery, one patient underwent in vitro fertilization and achieved an ongoing pregnancy. The other conceived spontaneously, but was diagnosed with an ectopic pregnancy.

Pulmonary Hypoplasia: A Rare Cause of Chronic Cough in TB Endemic Area

Pulmonary hypoplasia is a rare disease characterized by a defect of lung development more often unilateral. The diagnosis requires several exams to eliminate other causes of pulmonary retraction. We report two cases at the department of pneumophtisiology of the University Teaching Hospital of Point G. The first case is a young adult who was complaining of a chronic cough. Etiological investigation required several exams including spirometry and Computed tomographic scan (CT scan). After elimination of all suspected causes of pulmonary opacity, the diagnosis of pulmonary hypoplasia was retained. The second case is a 2-year-old girl who was born with congenital cardiopathy whose respiratory complications were increasing during her childhood and respiratory explorations discovered pulmonary agenesis. Pulmonary hypoplasia is rare in our medical practice, but attention must be drawn to a retractile pulmonary opacity in young age after elimination of all infectious causes in TB endemic area.

Three Cases of Familial Clavicular Hypoplasia

CCD （cleidocranial dysplasia） is a kind of rare congenital skeletal dysplasia and deformity. It has rare clinical syndrome, such as forehead radius, small maxilla ofa cial, wide long distance eye, collapse nose, widening cranial suture, incompleted closure of the frontal, clavicle hypoplasia, increased range of shoulder motion and other abnormalities. Often accompanied by teeth hypoplasia or impacted, through a careful observation of the clinical morphology, case history and X-ray examination can confirm the diagnosis.

A rare clinical presentation of pulmonary hypoplasia

Pulmonary hypoplasia is a rare congenital anomaly, which is frequently associated with other congenital anomalies. Clinical symptoms vary depending on the other system anomalies and severity of pulmonary hypoplasia. Although it is usually diagnosed in infancy and childhood, some cases do not show any symptoms until the adolescent ages. In adolescents and adults with unilateral hypolucent lung, although it is seen rarely, pulmonary hypoplasia should always be kept in mind. In this article, we present a case with pulmonary hypoplasia who remained asymptomatic until puberty.

Biventricular isolated apical hypoplasia:First-time description of a new cardiac abnormality by multimodality imaging

Left ventricular isolated hypoplasia is a seldom-described cardiac abnormality.Right ventricular hypoplasia is usually associated with congenital anomalies of the pulmonary or the tricuspid valve,whereas biventricular isolated apical hypoplasia has never been described.We report the case of a 48-year-old man with no history of known cardiac disease who was found to have a complex cardiac abnormality characterized by:1)Deficiency of the myocardium within the biventricular apex with adipose tissue infiltration;2)Truncated right ventricle because of an absent trabecular portion of the inflow tract;3)Truncated and spherical left ventricular apex;4)Origin of the mitral papillary muscle in the flattened anterior left ventricular apex.Multimodality imaging was performed to delineate the morphological and functional characteristics of this cardiomyopathy fully.To the best of our knowledge,this is the first description of a new cardiac abnormality characterized by the hypoplasia of the apical region of both ventricles in the absence of valvular or coronary artery disease.

Congenital Unilateral Hypoplasia of the Orbicularis Oris Muscle:A Rare Cause of Congenital Unilateral Upper Lip Palsy

Asymmetric facial appearance may originate from abnormalities of facial musculature or facial innervation. Congenital absence or hypoplasia of facial muscles has not been known except for the depressor anguli oris muscle. Even, congenital unilateral hypoplasia of the orbicularis oris muscle cause of unilateral upper lip palsy has not been reported in the literature up to day. In this report, we present a patient with congenital unilateral upper lip palsy although the facial nerve was normal.

仅有部分底回的耳蜗发育不全畸形

目的根据影像学特征探讨一种有别于目前Sennaroglu分类标准的特殊耳蜗畸形种类及其临床表现。方法分析11例(13耳)特殊耳蜗畸形患者的颞骨高分辨率CT(HRCT)、3D-核磁(3D-MRI)表现和听力学结果,归纳此类耳蜗畸形的特点。结果此类耳蜗畸形的影像学表现为仅有部分耳蜗底回自前庭腹侧发出,无转弯或仅有部分内侧转弯,无上底回、中回及顶回(耳蜗不足0.5圈),无蜗轴及阶间隔;在HRCT轴位图像上均未见到耳蜗与内听道(IAC)产生连接。MRI均显示蜗神经发育不良(CND),听力学均表现为全聋;大多伴有发育异常的前庭(12/13)和畸形的半规管(12/13),对侧耳蜗也多伴有严重畸形(10/13)。根据影像学特点,此类耳蜗畸形仅有部分底回发育,属于耳蜗发育不全(CH),本研究将其命名为耳蜗发育不全X型(CH-X)。结论仅有部分底回(不足0.5圈)的耳蜗发育不全(CH-X)是一类严重的内耳畸形,约占内耳畸形的2%左右,患耳表现为全聋,由于畸形的耳蜗无明显的蜗孔和蜗神经,人工耳蜗植入可能获益较小。

3D打印导板在上颌骨前段牵引成骨中的应用及精度测量

目的·评估上颌骨前段牵引成骨(anterior maxillary segmental distraction osteogenesis,AMSDO)在治疗唇腭裂继发上颌骨发育不足中的作用以及3D打印导板在截骨中的精度。方法·收集12例接受了AMSDO治疗的唇腭裂患者的病例资料。手术前在患者的三维模型上进行虚拟手术,并通过3D打印将患者的截骨线制成牙支持式导板。术前(T0)、巩固期结束(T1)以及巩固期后6个月(T2)进行头影测量以评估AMSDO的效果及稳定性。导板的精度通过术后即刻CT与术前设计CT进行叠加,并通过计算位置和角度误差进行评估。结果·所有患者都顺利完成了牵引治疗,没有发生严重的并发症。SNA(S-N-A角)和覆盖从T0到T1以及T0到T2都发生了显著的改变。ANB(A-N-B角)、面部突度、硬腭长度都发生了变化,但是差异没有统计学意义。SNB(S-N-B角)基本没有发生变化。从T1到T2,所有的参数都没有发生明显变化。导板截骨精度在矢状向的线性均方根误差为0.90 mm,角度均方根误差为5.07°。结论·AMSDO是治疗唇腭裂继发上颌骨发育不足的一种有效方法。3D打印的截骨导板具有良好的精度,在减少手术并发症的同时降低了手术的难度。

新加苁蓉菟丝汤通过线粒体自噬途径促卵泡发育的分子机制

基于液相色谱-质谱联用仪(LC-MS)技术、网络药理学和动物实验探讨新加苁蓉菟丝汤(XJCRTST)通过颗粒细胞线粒体自噬途径促卵泡发育的分子生物学机制。通过LC-MS和网络药理学筛选出XJCRTST的主要成分、其治疗卵巢功能减退疾病靶点及通路。选取雌性SD大鼠分为模型组,西药组,XJCRTST高、中、低剂量组共5组。HE染色观测卵巢形态学变化;透射电镜观察卵巢颗粒细胞中线粒体结构形态及线粒体自噬体。结果表明,LC-MS技术鉴定出XJCRTST化合物共252个,其治疗卵巢功能减退类疾病潜在作用靶点42个,GO功能富集过程中主要涉及BP(1168项)、CC(45项)和MF(59项),KEGG通路富集显示参与的通路有AGE-RAGE、Prolactin及TNF信号通路等,Mitophagy-animal过程中共富集了3个靶基因:Parkin/PINK1、HIF1A、MAPK8。动物实验表明,中药治疗组大鼠卵泡数量增多,闭锁卵泡减少。电镜观察中发现中药组线粒体肿胀减轻、线粒体自噬情况减少。综上得出XJCRTST治疗卵巢功能减退可能通过调节卵巢颗粒细胞中线粒体功能和线粒体自噬相关通路发挥其治疗作用。

上颌扩弓前牵引治疗青少年唇腭裂继发上颌发育不足的近远期疗效研究

目的:回顾分析上颌扩弓及面框前牵引治疗青少年唇腭裂整复术后继发上颌骨发育不足的近、远期头颅侧位片的变化,了解该治疗的稳定性。方法:收集资料完整行上颌扩弓前牵引治疗并远期观察的唇腭裂患者23例,对治疗前(T0)、治疗后即刻(T1)及远期(T2)的头颅定位侧位片进行头影测量分析比较。结果:治疗后T1期发现∠SNA平均增大1.21°,∠SNB减小1.94°,∠ANB增大3.15°,上颌骨位置及大小均变大。下颌平面角增大,下颌骨升支增大,上下颌前后牙槽高度均变大。上前牙唇倾度改善,软组织表现为上唇突度增加。经远期观察(T2)发现上颌骨相关指标稳定,下颌骨体部在牵引结束后开始明显增大,而升支和下颌前后牙槽高度则表现为T0到T2持续增大。下颌平面角减小,但较T0期仍大。∠ANB虽减小但比T0期仍增大2.05°,上唇软组织突度减小。结论:上颌扩弓前牵引可以通过促进上颌发育和下颌后下旋来改善唇腭裂患者的骨性Ⅲ类关系,长期观察上颌前牵引效果稳定,但下颌骨继续生长和前上旋导致效果有所反弹。

Diseases of bile duct in children

Several diseases originate from bile duct pathology.Despite studies on these diseases,certain etiologies of some of them still cannot be concluded.The most common disease of the bile duct in newborns is biliary atresia,whose prognosis varies according to the age of surgical correction.Other diseases such as Alagille syndrome,inspissated bile duct syndrome,and choledochal cysts are also time-sensitive because they can cause severe liver damage due to obstruction.The majority of these diseases present with cholestatic jaundice in the newborn or infant period,which is quite difficult to differentiate regarding clinical acumen and initial investigations.Intraoperative cholangiography is potentially necessary to make an accurate diagnosis,and further treatment will be performed synchronously or planned as findings suggest.This article provides a concise review of bile duct diseases,with interesting cases.