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Congenital, Hereditary, and Neonatal Diseases and Abnormalities - Top 30 Publications

Unusual macrocystic lymphatic malformation in an adult patient.

Macrocystic lymphatic malformations (MLMs) constitute a circumscribed variation in deep lymphangiomas. They are characterized by a rare occurrence in adults, by their rapid expansion and by their frequent occurrence at the level of the cervicofacial region (75%) and axillary region (20%). They rarely occur in lower limbs. The diagnosis of MLMs is primarily based on clinical examination. Ultrasound has a valuable role in positive diagnosis and sometimes in differential diagnosis. MRI has a role in the diagnosis and the assessment of tumor extent, thus making a valuable contribution to surgery. Therapeutically, MLMs are mainly treated by sclerotherapy; surgery is rarely indicated. We report the case of 26-year old man with a one-year history of huge painless and rapidly evolving subcutaneous swelling in the right thigh. Clinical examination showed circumferential compressible non-beating infiltrated mass, surmounted by vegetative and ulcerated lesions. The remainder of the clinical examination showed the presence of inguinal ipsilateral lymphadenopathy, with mobility limitation of the right knee. Angio-MRI objectified diffuse heterogeneous gadolinium-enhancing cutaneous, subcutaneous thickening of the right thigh with perimuscolar aponeurotic involvement. Lymphoscintigraphy showed asymmetry of the accumultion of radiopharmaceutical kinetics that was reduced in the right lower limb in favor of an overload of the lymphatic system at rest. Given the clinico-radiological data, the diagnosis of MLM was retained. Given the seat of the lymphangioma and its extent, after consultation with the surgeons there was no indication for surgery. Immobilization with a removable bandage was indicated for our patient.

Occult hepatitis B reactivation in a patient with homozygous sickle cell disease: clinical case and literature review.

Occult Hepatitis B corresponds to the presence of hepatitis B virus-deoxyribonucleic acid (HBV-DNA) in serum and/or in liver of a patient despite HBsAg negativity. Clinically, it is usually asymptomatic. Its reactivation is rare and commonly occurs in immunosuppressed individuals. We report the case of a 21-year old patient from Senegal, with homozygous sickle cell disease, presenting with cholestatic jaundice. Laboratory tests showed reactivation of occult Hepatitis B. This study emphasizes the need to systematically investigate the presence of occult Hepatitis B in patients with sickle cell disease suffering from acute liver disease.

The delivery of a macrosomic infant is a relatively common situation. It can put mother and fetus at high risk. The main maternal complications are the increase in cesarean rates, postpartum hemorrhage and cervicovaginal traumatic lacerations. The main fetal complication is shoulder dystocia increasing the risk of brachial plexus. The objective was to identify risk factors and maternal-fetal complications associated with fetal macrosomia. Comparative retrospective study conducted at Kairouan University Hospital maternity unit in 2010. We compared a group of 820 cases of macrosomic infants to a control group of 800 cases of infants born in the same period of time. During the study period we collected clinical data of 820 macrosomic cases on a total of 7.495 deliveries, corresponding to a total incidence of 10.94%. Several factors predisposing to fetal macrosomia were highlighted: Maternal age> 35 years was present in 28.5% of cases; Maternal obesity was found in 45% of cases; A personal history of macrosomia was noted in 28,8% of cases; Prolonged pregnancies > 41 weeks of amenorrhoea was noted in 35.6% of cases; Multiparity was found in 47% of cases. Maternal complications were essentially postpartum hemorrhage: 71 cases and genital traumas: 24 cases. Perinatal complications were dominated by shoulder dystocia: 27 cases (3.3%). Traumatic postpartum complications were found in 11.6%.

Gallbladder agenesis: about three cases.

Gallbladder agenesis is a rare congenital anomaly. This study aimed to highlight the epidemiological aspects of this condition as well as the peculiarities of its diagnostic and therapeutic management through three case reports. Two adults were admitted to Hospital with hepatic colics and dyspepsia. Ultrasound showed multilithiasic scleroatrophic vesicle. In one of the two patients, CT scan results showed a stone at the level of scleroatrophic vesicle. These two patients were wrongly operated for vesicular lithiasis by using conventional method. The absence of gallbladder was detected during surgery. In order to confirm post-operative diagnosis, the first patient underwent biliary MRI. The other patient was lost to follow-up. The third patient was a 13-year old child hospitalized with acute pancreatitis. Vesicular agenesis was suspected based on its scannographic aspect and then confirmed using biliary MRI. This patient didn't underwent surgery.

Case 7-2018: A 25-Year-Old Man with New-Onset Seizures.

Familial Mediterranean fever mimicking Crohn disease: A case report.

Familial Mediterranean fever (FMF) is the most common form of autoinflammatory disease. We report a rare case of FMF with gastrointestinal lesions mimicking Crohn disease.

Targeted next-generation sequencing identifies a novel nonsense mutation in SPTB for hereditary spherocytosis: A case report of a Korean family.

Hereditary spherocytosis (HS) is an inherited disorder characterized by the presence of spherical-shaped red blood cells (RBCs) on the peripheral blood (PB) smear. To date, a number of mutations in 5 genes have been identified and the mutations in SPTB gene account for about 20% patients.

Vaginal atresia and cervical agenesis combined with asymmetric septate uterus: A case report of a new genital malformation and literature review.

A combination of Vaginal atresia and septate uterus as a novel genital malformation has been reported the first time. It offers a support for the bidirectional theory.

Clinically suspected anaphylaxis induced by sugammadex in a patient with Weaver syndrome undergoing restrictive mammoplasty surgery: A case report with the literature review.

Sugammadex is a cylodextrin derivate that encapsulates steroidal neuromuscular blocker agents and is reported as a safe and well-tolerated drug. In this case report, we present a patient who developed grade 3 anaphylaxis just after sugammadex administration.

Case report of primary intestinal lymphangiectasia diagnosed in an octogenarian by ileal intubation and by push enteroscopy after missed diagnosis by standard colonoscopy and EGD.

Primary intestinal lymphangiectasia (PIL) is a rare, presumably congenital lesion that is usually diagnosed in patients < 3 years old, is rarely first diagnosed in adulthood, and when first diagnosed in adulthood typically presents with symptoms for many years. Although PIL is often identified by endoscopic abnormalities, it must be emphasized that the jejunoileum/distal duodenum must be intubated for diagnosis because the lesions are present in these regions. This work demonstrates that 1)-PIL can occur in an octogenarian; 2)-shows that the characteristic endoscopic findings are not found at colonoscopy without terminal ileal intubation; and 3)-may be missed at standard EGD without distal duodenal intubation.

Three-dimensional brain arteriovenous malformation models for clinical use and resident training.

To fabricate three-dimensional (3D) models of brain arteriovenous malformation (bAVM) and report our experience with customized 3D printed models of patients with bAVM as an educational and clinical tool for patients, doctors, and surgical residents.

Predicting need for orthognathic surgery in early permanent dentition patients with unilateral cleft lip and palate using receiver operating characteristic analysis.

The purpose of this study was to predict the need for orthognathic surgery in patients with unilateral cleft lip and palate (UCLP) in the early permanent dentition.

A case report of POEMS syndrome with renal involvement as immunotactoid glomerulopathy.

POEMS syndrome is a rare multi-system disorder, which sometimes involves the kidney. Immunotactoid glomerulopathy (ITG) is an uncommon glomerular disease resulted from deposits of immunoglobulins and its derivatives. ITG caused by POEMS syndrome is rarely reported.

A case report of Brugada-like ST-segment elevation probably due to coronary vasospasm.

Vasospastic angina is caused by sudden occlusive vasoconstriction of a segment of an epicardial artery, with transient ST-segment elevation on electrocardiography. Brugada Syndrome is an inherited arrhythmogenic cardiac disorder with a diagnostic electrocardiography characterized by coved-type ST-segment elevation in right precordial leads (V1-V3). Those two diseases usually have no correlation. In this report, we discuss an interesting case of a patient who was diagnosed as vasospastic angina according to his coronary angiography, but his electrocardiography showed a Brugada-like ST-segment elevation.

Diagnostic value of chest CT combined with x-ray for premature infants with bronchopulmonary dysplasia.

Bronchopulmonary dysplasia (BPD) is a common chronic lung disease in the newborns. Staging of BPD severity does not have a high predictive value for the outcomes. This study was aimed to assess the diagnostic value of chest computed tomography (CT) combined with x-ray for premature infants with BPD.Twenty-five premature infants with mild BPD and 20 premature infants with moderate to severe BPD treated at our hospital from January 2015 to December 2015 were randomly selected. The imaging features were compared between premature infants with different severity of BPD.In mild BPD group, the incidence of increased lung opacity (at 3-10 and 29 days) were significantly higher than those in infants with moderate to severe BPD (P = .034, P = .003, respectively). However, the incidences of stage III BPD (3-10 days) and stage IV BPD (11-27 days) were significantly lower in infants with mild BPD than those in infants with moderate to severe BPD (P = .013, P = .033, respectively). The chest x-ray score in the mild BPD group was significantly lower than that in moderate to severe BPD group [3.0 (1.0) vs 5.0 (1.0), P < .001]. Spearman rank correlation analysis indicated that chest x-ray score had significant correlation (r = 0.787, P < .001) with the clinical severity. In the mild BPD group, the chest CT scan score was 11.52 ± 3.49, which was considerably lower than that in the moderate to severe BPD group (24.70 ± 4.32) (P < .001). Moreover, the severity of BPD in the premature infants was significantly correlated to the chest CT scan score (r = 0.855, P < .001).Chest CT combined with x-ray is an effective method for predicting the severity of BPD in premature infants.

Agenesis of the dorsal pancreas: a rare cause of insulin-dependent diabetes without abdominal pain: Case report.

Agenesis of the dorsal pancreas is a very rare condition with an unknown pathology and etiology, although it may be associated with autosomal dominant or X-linked dominant inheritance or retinoic acid and hedgehog signaling pathway alterations. This condition usually manifests with abdominal pain or pancreatitis, although some cases are asymptomatic. Approximately 50% of affected patients with this disorder present with hyperglycemia or various other anomalies.

Functional analysis of cell-free RNA using mid-trimester amniotic fluid supernatant in pregnancy with the fetal growth restriction.

The prediction and monitoring of fetal growth restriction (FGR) fetuses has become with the use of ultrasound. However, these tools lack the fundamental evidence for the growth of fetus with FGR excluding pathogenic factors.Amniotic fluid samples were obtained from pregnant women for fetal karyotyping and genetic diagnosis at 16 to 19 weeks of gestation. For this study, 15 FGR and 9 control samples were selected, and cell-free fetal RNA was isolated from each supernatant of the amniotic fluid for microarray analysis.In this study, 411 genes were differentially expressed between the FGR and control group. Of these genes, 316 genes were up-regulated, while 95 genes were down-regulated. In terms of gene ontology, the up-regulated genes were highly related to metabolic process as well as protein synthesis, while the down-regulated genes were related to receptor activity and biological adhesion. In terms of tissue-specific expression, the up-regulated genes were involved in various organs while down-regulated genes were involved only in the brain. In terms of organ-specific expression, many genes were enriched for B-cell lymphoma, pancreas, eye, placenta, epithelium, skin, and muscle. In the functional significance of gene, low-density lipoprotein receptor-related protein 10 (LRP10) was significantly increased (6-fold) and insulin-like growth factor (IGF-2) was dramatically increased (17-fold) in the FGR cases.The results show that the important brain-related genes are predominantly down-regulated in the intrauterine growth restriction fetuses during the second trimester of pregnancy. This study also suggested possible genes related to fetal development such as B-cell lymphoma, LRP10, and IGF-2. To monitor the fetal development, further study may be needed to elucidate the role of the genes identified.

Evaluation of the anatomic and hemodynamic abnormalities in tricuspid atresia before and after surgery using computational fluid dynamics.

Analysis of hemodynamics inside tricuspid atresia (TA) chamber is essential to the understanding of TA for optimal treatment. In this study, we introduced a combined computational fluid dynamics (CFD) to simulate blood flow in the left ventricle (LV) to study the diastolic flow changes in TA.Real-time 3-dimentional echocardiography loops (ECHO) were acquired in normal control group, in TA patients before surgery (pre-op group) and after surgery (post-op group). ECHO loops were reconstructed and simulated by CFD, the geometric, volumetric changes, and vortices in the LV were studies and compare among 3 groups.Compared with the control group, pre-op TA patients demonstrated significant LV remodeling, manifesting with smaller LV length, larger diameter, width and spherical index, as well as lager volumes; post-op TA group showed revisions in values of both geometric and volumetric measurements. CDF also demonstrated the abnormality of vortices in the pre-op TA patients and the alteration of existence and measurements of vortex in postoperation group.Echo-based CFD modeling can show the abnormality of TA in both LV geometric, volumetric measurements and intracardiac vortices; and CFD is capable to demonstrate the alterations of LV after Fontan and Glenn surgical procedure.

The allocentric neglect due to injury of the inferior fronto-occipital fasciculus in a stroke patient: A case report.

We report on a patient who developed allocentric neglect due to injury of the inferior fronto-occipital fasciculus (IFOF) following intracranial hemorrhage, diagnosed using diffusion tensor tractography (DTT).

A novel endobronchial approach to massive hemoptysis complicating silicone Y-stent placement for tracheobronchomalacia: A case report.

Airway stabilization for severe, symptomatic tracheobronchomalacia (TBM) may be accomplished by silicone Y-stent placement. Common complications of the Y-stent include mucus plugging and granulation tissue formation.

Systemic-pulmonary arteriovenous fistulae with pulmonary hypertension: A case report.

Arteriovenous (AV) fistulae is an extremely rare disease of vascular malformation that involves fistulae formation between the systemic and pulmonary AV systems.

Occurrence of signet-ring cell carcinoma with cholangiocarcinoma 25 years after choledochal cyst excision: A case report.

Choledochal cysts are a risk factor for the development of cholangiocarcinoma. Hence, complete surgical excision is the preferred treatment in most cases. However, cholangiocarcinoma still can develop from the remnant biliary system after surgical excision. Signet-ring cell carcinoma is a rare type of cancer of the biliary system, and the occurrence of signet-ring cell carcinoma after surgical excision of choledochal cysts has not been reported in the English literature to date.

Atypical microdeletion in 22q11 deletion syndrome reveals new candidate causative genes: A case report and literature review.

22q11 deletion syndrome, the most common chromosomal microdeletion disease, is caused by megabase-sized deletions on chromosome 22q11.2. It is characterized by a wide spectrum of congenital anomalies in velopharyngeal and facial, cardiac, genitourinary, vertebroskeletal, respiratory, digestive, and central nervous systems. Phenotype-genotype studies have revealed several causative genes that regulate the development of the third and fourth pharyngeal arches in human. However, the exact pathogenesis of this syndrome remains unknown. Herein, we report a case of 22q11 deletion syndrome with an atypical microdeletion of 125 kb.

Subacute onset leukodystrophy and visual-spatial disorders revealing phenylketonuria combined with homocysteinmia in adulthood: A case report.

Phenylketonuria (PKU) is a metabolic disorder, which manifests a progressive irreversible neurological impairment during infancy and childhood. Hyperhomocysteinemia also showed that it might be involved in pathophysiology of many neuropsychiatric disorders. The late-onset clinical manifestations of these 2 diseases have not been reported elsewhere. We speculated that the late-onset PKU is caused by 2 kinds of metabolic dysfunction synergistically, especially a short period of irregular diet directly caused clinical symptoms.

Two cases of Dieulafoy lesions of the bronchus with novel comorbid associations and endobronchial ablative management.

Dieulafoy lesions are aberrantly large submucosal arteries most frequently associated with gastrointestinal hemorrhage. They are rarely identified in the bronchial submucosa and can cause massive hemoptysis.

Primary cutaneous amyloidosis associated with autoimmune hepatitis-primary biliary cirrhosis overlap syndrome and Sjögren syndrome: A case report.

Primary cutaneous amyloidosis (PCA) is a localized skin disorder characterized by the abnormal deposition of amyloid in the extracellular matrix of the dermis. The association between PCA and other diseases, although rare, has been documented for various autoimmune diseases. PCA associated with autoimmune hepatitis-primary biliary cirrhosis (AIH-PBC) overlap syndrome and Sjögren syndrome (SS) has not been previously reported in the literature.

Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.

Hypomyelinating disorders are a group of clinically and genetically heterogeneous diseases characterized by neurological deterioration with hypomyelination visible on brain MRI scans. This study was aimed to clarify the clinical and genetic features of HMDs in Chinese population.

Hemophilia Gene Therapies Show Promise.

Phytomedicines (medicines derived from plants) for sickle cell disease.

Sickle cell disease, a common recessively inherited haemoglobin disorder, affects people from sub-Saharan Africa, the Middle East, Mediterranean basin, Indian subcontinent, Caribbean and South America. It is associated with complications and a reduced life expectancy. Phytomedicines (medicine derived from plants in their original state) encompass many of the plant remedies from traditional healers which the populations most affected would encounter. Laboratory research and limited clinical trials have suggested positive effects of phytomedicines both in vivo and in vitro. However, there has been little systematic appraisal of their benefits. This is an update of a Cochrane Review first published in 2004, and updated in 2010, 2013, and 2015.

Airway ciliary dysfunction and respiratory symptoms in patients with transposition of the great arteries.

Our prior work on congenital heart disease (CHD) with heterotaxy, a birth defect involving randomized left-right patterning, has shown an association of a high prevalence of airway ciliary dysfunction (CD; 18/43 or 42%) with increased respiratory symptoms. Furthermore, heterotaxy patients with ciliary dysfunction were shown to have more postsurgical pulmonary morbidities. These findings are likely a reflection of the common role of motile cilia in both airway clearance and left-right patterning. As CHD comprising transposition of the great arteries (TGA) is commonly thought to involve disturbance of left-right patterning, especially L-TGA with left-right ventricular inversion, we hypothesize CHD patients with transposition of great arteries (TGA) may have high prevalence of airway CD with increased respiratory symptoms.