Partial Syndrome Research Articles

Nine genes that may contribute to partial trisomy (6)(p22→pter) and unique presentation of persistent hyperplastic primary vitreous with retinal detachment

We report on a newborn girl with facial anomalies, a congenital heart defect, severe pre- and postnatal growth retardation, feeding problems, and persistent hyperplastic primary vitreous. Cytogenetic analysis by high resolution GTG banding showed extra chromosomal material on the short arm of one chromosome 1 of the patient, but neither parent. SKY and CGH analysis demonstrated that the patient had a de novo 46,XX, der(1)t(1;6)(p36.3; p22). Compared with previously reported cases of partial trisomy 6p22 syndrome, this patient exhibited a unique condition for this syndrome: persistent hyperplastic primary vitreous (PHPV) with retinal detachment. The human genome database was searched for candidate genes and we propose the following nine genes located in the 6p22→6pter region for their potential contribution to the phenotype of partial trisomy 6p22→pter and persistent hyperplastic primary vitreous (PHPV) with retinal detachment: Forkhead box Q1 (FOXQ1), FOXF2, FOXC1, NRN1, EDN1, ATXN1, DEK oncogene, E2F3, and NRNS1.

Impact of a physician-supervised exercise-nutrition program with testosterone substitution in partial androgen-deficient middle-aged obese men

BackgroundPartial androgen deficiency syndrome in the aging male is associated with signs of aging such as a development of abdominal obesity, sexual dysfunction, increase body fat, weight gain and the development of cardiac disease.ObjectiveWe assessed the outcome of a commercially available physician supervised nutrition and exercise program with concomitant testosterone replacement therapy in middle age obese men with partial androgen deficiency in order to reduce cardiac risks factors.MethodsFifty-six self referred men without diabetes mellitus, hypertension, or cardiovascular disease (ages 52.3 ± 7.8 years) were randomly selected from a large cohort. Baseline weight, body fat composition, fasting glucose, hemoglobin A1c and fasting lipid levels, as well as free and total testosterone levels were assessed. All patients were assessed and followed 6–18 months after initiation of the program. The program consisted of a low glycemic load balanced nutrition diet, a recommended structured daily exercise program of 30–60 minutes, as well as once to twice weekly intramuscular testosterone injections (113.0 ± 27.8 mg).ResultsAt follow up, weight was reduced from 233.9 ± 30.0 pounds (lbs) to 221.3 ± 25.1 lbs (P < 0.001), BMI was reduced from 33.2 ± 3.3 kg/m2 to 31.3 ± 2.8 kg/m2 (P < 0.0001). Total body fat was 27.1% ± 5.2% vs. 34.3% ± 5.7% at baseline (P < 0.0001). Fasting glucose was reduced from 95.3 ± 14.4 mg/dL to 87.5 ± 12.6 mg/dL (P < 0.0001). Total cholesterol was reduced from 195.4 ± 33.0 mg/dL to 172.7 ± 35.0 mg/dL (P < 0.005). No clinically significant adverse events were recorded.ConclusionsTestosterone replacement therapy in middle aged obese men with partial androgen deficiency appeared safe and might have promoted the effects of a weight reduction diet and daily exercise program as long as an adequate physician supervision and follow up was granted. The combination therapy significantly reduced coronary risk factors such as glucose intolerance and hyperlipidemia.

Left Ventricle Diverticulum with Partial Cantrell's Syndrome.

Cantrell syndrome is a very rare congenital disease associating five features: a midline, upper abdominal wall disorder, lower sternal abnormality, anterior diaphragmatic defect, diaphragmatic pericardial abnormality, and congenital abnormalities of the heart. In this paper, we report a case of partial Cantrell's syndrome with left ventricular diverticulum, triatrial situs solitus, ventricular septal defect, dextrorotation of the heart, an anterior pericardial diaphragmatic defect, and a midline supraumbilical abdominal wall defect with umbilical hernia. The 5-month-old patient underwent a successful cardiac surgical procedure. A PTFE membrane was placed on the apex of the heart to facilitate reopening of the patient's chest. Postoperative course was uneventful. The patient was discharged with good clinical condition and with a normal cardiac function.

Olanzapine-induced electroencephalographic changes reversed by lamotrigine

The atypical neuroleptic, olanzapine (OLZ), may induce electroencephalographic (EEG) abnormalities. The anticonvulsant, lamotrigine (LMG), reduces interictal epileptiform discharges and is effective in seizures in patients with both primary and partial epilepsy syndromes. The effect of LMG on neuroleptic-induced EEG abnormalities has not been previously reported. We describe the case of a 13-year-old male with paroxysmal nonepileptic spells who underwent diagnostic video-EEG telemetry, whose abnormal OLZ-induced EEG findings were strikingly affected by LTG withdrawal and reintroduction. The effect of LTG in normalizing EEG changes in suspected epilepsy caused by atypical neuroleptics is discussed.

A case of partial trisomy 3p syndrome with rare clinical manifestations

Partial trisomy 3p results from either unbalanced translocation or de novo duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred to our clinic. She had cleft lip-plate, dysgenesis of the corpus callosum, patent ductus arteriosus, pulmonary hypertension, and severe right-sided hydronephrosis, associated with ureteropelvic junction obstruction. Cytogenetic investigation revealed partial trisomy 3p; 46,XX,der(4)t(3;4) (p21.1;p16). The karyotype of her father showed a balanced translocation, t(3;4)(p21.1;p16). Therefore, the size of duplication can be an important factor.

Suppression of Tinnitus in a Patient with Unilateral Sudden Hearing Loss: A Case Report

We describe a case of a 67-year-old woman with severe disabling right-sided tinnitus, mild hyperacusis, and headache. The tinnitus was associated with sudden right hearing loss and vertigo, which occurred about 18 months before. Magnetic resonance imaging (MRI) resulted in normal anatomical structures of the cochlea and of the cranial nerves showing a partial empty sella syndrome with suprasellar cistern hernia. Angio-MR revealed a bilateral contact between the anterior-inferior cerebellar artery (AICA) and the acoustic-facial nerve with a potential neurovascular conflict. Surgery was considered unnecessary after further evaluations. The right ear was successfully treated with a combination device (hearing aid plus sound generator). Shortly after a standard fitting procedure, the patient reported a reduction of tinnitus, hyperacusis, and headache which completely disappeared at the follow-up evaluation after 3, 6, and 12 months. This paper demonstrates that the combination device resulted in a complete tinnitus and hyperacusis suppression in a patient with unilateral sensorineural sudden hearing loss. Our paper further supports the restoration of peripheral sensory input for the treatment of tinnitus associated with hearing loss in selected patients.

Care and Charges for Acute Cerebral Infarction Inpatients in China: A Hospital Based Study in Soochow

Objective The objective of the present study is to evaluate the current status of care and charges of acute ischaemic stroke in a university teaching hospital in China, and to identify the main determinants of such charges. Methods Acute ischaemic stroke patients from July 2009 to June 2010 were considered. We examined demographic data, clinical data, hospital care and outcomes at discharge and hospital charges retrospectively. The influence of medical factors on total charges was analyzed. Results The mean initial National Institutes of Health Stroke Scale score of all acute ischaemic stroke patients was 7.2 points. Thirteen percents were total anterior circulation syndrome, 20% were partial anterior circulation syndrome, 7% were posterior circulation syndrome and 60% were lacunar syndrome. The mean hospital length of stay (LOS) was 8.5 days. All patients underwent neuroimaging studies, 2% of whom received thrombolysis, 93% received traditional Chinese medicine injection, 83% received antiplatelet and 6% received anticoagulation therapy, only 29% received in-hospital rehabilitation. The mean hospital charges per patient was ¥9230.2 (US$1357.3), of which 56.2% was attributed to the charges for medications, 13.4% for imaging studies, 12.1% for laboratory examinations. Total hospital charges were correlated strongly with LOS, admission to care unit, and computed tomography angiography or digital subtraction angiography of the brain. Conclusions Total hospital charges correlates significantly with hospital LOS, admission to care unit, investigation with computed tomography angiography or digital subtraction angiography of the brain, while clinical syndromes do not influence total charges independently. The cost of drug is the largest portion of the mean hospital charge. A treatment protocol in acute ischaemic stroke might optimise cost. (Hong Kong j.emerg.med. 2011;18:383-390)

Partial tetraplegic syndrome as a complication of a mobilizing/manipulating procedure of the cervical spine in a man with Forestier's disease: a case report.

IntroductionEven if performed by qualified physical therapists, spinal manipulation and mobilization can cause adverse events. This holds true particularly for the cervical spine. In light of the substantial risks, the benefits of cervical spine manipulation may be outweighed by the possibility of further injury.Case presentationWe present the case of a 56-year-old Caucasian man with Forestier's disease who went to see a physiotherapist to relieve his aching neck while on a holiday trip. Following the procedure, he was transferred to a local hospital with a partial tetraplegic syndrome due to a cervical 6/7 luxation fracture. Reportedly, the physiotherapist took neither a detailed history, nor adequate diagnostic measures.ConclusionsThis case highlights the potentially dangerous complications associated with cervical spine mobilization/manipulation. If guidelines concerning cervical spine mobilization and manipulation practices had been followed, this adverse event could have been avoided.

De novo 7p partial trisomy characterized by subtelomeric FISH and whole-genome array in a girl with mental retardation

Chromosome rearrangements involving telomeres have been established as one of the major causes of idiopathic mental retardation/developmental delay. This case of 7p partial trisomy syndrome in a 3-year-old female child presenting with developmental delay emphasizes the clinical relevance of cytogenetic diagnosis in the better management of genetic disorders. Application of subtelomeric FISH technique revealed the presence of interstitial telomeres and led to the ascertainment of partial trisomy for the distal 7p segment localized on the telomeric end of the short arm of chromosome 19. Whole-genome cytogenetic microarray-based analysis showed a mosaic 3.5 Mb gain at Xq21.1 besides the approximately 24.5 Mb gain corresponding to 7p15.3- > pter. The possible mechanisms of origin of the chromosomal rearrangement and the clinical relevance of trisomy for the genes lying in the critical regions are discussed.

A Case of Acute Liver Failure of Unknown Cause Following PTFE-Coated TIPS Stent Insertion for Prevention of Esophageal Variceal Rebleed

Purpose: Case report: A 58 year old man with alcohol/HCV cirrhosis was evaluated for iron deficiency anemia. He had been abstinent for 10 months with stable liver function, and denied overt bleeding. Physical examination revealed caput medusa and splenomegaly without ascites or peripheral edema. His colonoscopy was normal. PHG and grade IV esophageal varices were identified on gastroscopy. Band ligation of esophageal varices resulted in massive hemorrhage with application of the first band, controlled with subsequent banding. He returned 7 months later for repeat banding and the same scenario ensued. He was started on nadolol but was unable to tolerate side effects. He was referred for TIPS to prevent further variceal bleeding. His MELD score was 11. A 6 cm PTFE covered stent was inserted through his middle hepatic vein into his portal vein, and reduced his porto-caval pressure gradient from 20 mmHg to 6 mmHg. A routine Doppler ultrasound one week post TIPS demonstrated flow within the right and left hepatic veins and confirmed patency of the stent. He presented to ER the following day with the only complaint of increasing jaundice. He denied no infections symptoms or ingestion of any medications. His blood work revealed markedly elevated bilirubin of 607 umol/L, mild rises in transaminases (AST= 158 and ALT= 196) and INR of 1.4. Unfortunately, he quickly decompensated, with steadily rising bilirubin. His MELD score rose from 11 to 42. The stent was evaluated and was in good position. All causes of acute liver failure had been excluded. Despite occlusion of TIPS, his liver function continued to decline and eventually required liver transplantation 1 month after TIPS. The liver explant showed end stage liver cirrhosis with features consistent with HCV and steatohepatitis without evidence of hepatic ischemia. Discussion: A recent randomized controlled trial demonstrated greater efficacy and lower mortality of early TIPS in preventing variceal rebleeding in cirrhotic patients hospitalized for acute bleed compared to pharmacologic plus band ligation therapy. Rare cases of liver failure caused by segmental liver ischemia following TIPS have been reported, thought to be due to a “partial Budd-Chiari syndrome” caused by obstruction of the hepatic vein in which the stent was implanted. In these cases, hepatic failure resolved either with supportive care or with occlusion of TIPS. Our patient developed acute liver failure of unknown cause following TIPS, necessitating liver transplantation. Careful selection of patients must be considered before embarking on early TIPS for prevention of variceal rebleed.

Analysis of relapses in anti-NMDAR encephalitis

The clinical characteristics of patients with relapsing anti-NMDA receptor (NMDAR) encephalitis are not well-defined. In this study, we report the clinical profile and outcome of relapses in a series of anti-NMDAR encephalitis. We did a retrospective review of relapses that occurred in 25 patients with anti-NMDAR encephalitis. Relapses were defined as any new psychiatric or neurologic syndrome, not explained by other causes, which improved after immunotherapy or, less frequently, spontaneously. A total of 13 relapses were identified in 6 patients. Four of them had several, 2 to 4, relapses. There was a median delay of 2 years (range 0.5 to 13 years) for the first relapse. Median relapse rate was 0.52 relapses/patient-year. Relapse risk was higher in patients who did not receive immunotherapy in the first episode (p = 0.009). Most cases (53%) presented partial syndromes of the typical anti-NMDAR encephalitis. Main symptoms of relapses were speech dysfunction (61%), psychiatric (54%), consciousness-attention disturbance (38%), and seizures (31%). Three relapses (23%) presented with isolated atypical symptoms suggestive of brainstem-cerebellar involvement. An ovarian teratoma was detected at relapse in only 1 patient (17%). Relapses did not add residual deficit to that caused by the first episode. Relapses in anti-NMDAR encephalitis are common (24%). They may occur many years after the initial episode. Relapses may present with partial aspects or with isolated symptoms of the full-blown syndrome. Immunotherapy at first episode reduces the risk of relapses.

Management of essential hyperhidrosis of upper limbs by radiofrequency thermocoagulation of second thoracic ganglion

IntroductionEssential hyperhidrosis is an idiopathic condition characterized by markedly excessive sweating especially in the hands. ObjectiveThis study was done to evaluate the functional results of radiofrequency thermocoagulation of T2 ganglion in 10 patients suffered from essential hyperhidrosis of both upper limbs. MethodsThis retrospective study was carried out on 10 patients suffered from essential hyperhidrosis of both upper limbs. The male to female ratio was 2 to 3 (4 males and 6 females) and their ages ranged from 16 to 28 years. Simultaneous palmar and plantar sweating was present in five patients (50%), simultaneous palmar and craniofacial hyperhidrosis in two patients (20%), and simultaneous palmar and axillary hyperhidrosis in one patient (10%), while palmar hyperhidrosis alone was found only in two patients (20%). All cases underwent surgery in the form of radiofrequency thermocoagulation (RFT) of T2 on both sides under local anesthesia and sedation using C-arm radiological guidance. Mean postoperative follow up examination period was 24 months. ResultsThere was no operative mortality. Pneumothorax occurred on left side in one patient. Transient partial Horner's syndrome occurred on the right side in another patient. Postoperatively, 9 patients (90%) had clinical improvement of their palmar sweating. The last patient had partial improvement on right side and no improvement on the left side. The operation was repeated in one case with recurrence on the right side who improved. At the last follow up, excellent results were obtained in 90% of limbs, fair results in 5% of limbs, and poor results in 5% of limbs. ConclusionThe results of this study indicate that second thoracic ganglionectomy and sympathectomy performed with the use of percutaneous RFT is a very effective treatment for palmar hyperhidrosis that provide excellent immediate and long-term results as well as a low complication rate.

Enhanced Oxidative Stress and Platelet Activation Combined with Reduced Antioxidant Capacity in Obese Prepubertal and Adolescent Girls with Full or Partial Metabolic Syndrome

In adults, obesity is a main factor implicated in increased oxidative stress (OS), platelet activation (PA) and impaired antioxidant status (AS), all predisposing factors for cardiovascular disease leading to increased morbidity and mortality. Furthermore, the metabolic syndrome (MetS) is an important cardiovascular risk factor, which progressively develops and may already be present during late childhood or adolescence. However, scarce data exist on oxidative-antioxidant balance and PA in childhood and adolescence in the presence of partial (PMetS) or full MetS. The aim of the study was to evaluate OS, PA, and AS in prepubertal and adolescent obese girls with partial or full MetS. 96 girls with a clinical and metabolic evaluation for obesity and 44 healthy normal-weight sex- and age-matched girls were studied. IDF-adopted criteria were used to define full and partial MetS and the patient population was divided into 4 groups: the first comprised 31 pre-pubertal girls with PMetS (PR-PMetS), the second 37 adolescents with PMetS (AD-PMetS), the third 10 prepubertal girls with full MetS (PR-MetS), and the fourth 18 adolescents with full MetS (AD-MetS). The OS was evaluated by measuring plasma 15-F(2t)-Isoprostane levels (15-F(2t)-IsoP) and protein carbonyls, PA by thromboxane B(2) levels (TXB(2)), and AS by serum vitamin E and plasma total antioxidant capacity (TAC) levels. 15-F(2t)-IsoP, protein carbonyls, and TXB(2) levels were significantly gradually amplified, and vitamin E and TAC reduced, and significantly correlated with obesity from childhood to adolescence and from partial to full MetS. This study demonstrates the loss of the normal homeostatic balance between oxidant-antioxidant state in obese children and adolescents with manifestations of partial and full MetS.

SP6-54 Suggestive behaviours of eating disorders in undergraduate female students: prevalence and associated factors

Eating disorders are behavioural syndromes which diagnoses criteria have been widely studied during the last decades. Anorexia nervosa, bulimia nervosa and partial syndromes stand out. Metabolic and electrolyte abnormalities and...

Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation

Autosomal dominant nocturnal frontal lobe epilepsy is a familial partial epilepsy syndrome and the first human idiopathic epilepsy known to be related to specific gene defects. Clinically available molecular genetic testing reveals mutations in three genes, CHRNA4, CHRNB2 and CHRNA2. Mutations in CHRNA4 have been found in families from different countries; the Ser280Phe in an Australian, Spanish, Norwegian and Scottish families, and the Ser284Leu in a Japanese, Korean, Polish and Lebanese families. Clear evidence for founder effect was not reported among them, including a haplotype study carried out on the Australian and Norwegian families. Japanese and Koreans, because of their geographical closeness and historical interactions, show greater genetic similarities than do the populations of other countries where the mutation is found. Haplotype analysis in the two previously reported families showed, however, independent occurrence of the Ser284Leu mutation. The affected nucleotide was highly conserved and associated with a CpG hypermutable site, while other CHRNA4 mutations were not in mutation hot spots. Association with a CpG site accounts for independent occurrence of the Ser284Leu mutation.

Focal segmental glomerulosclerosis and partial deletion of chromosome 6p: a case report

We treated a patient with 6p partial deletion syndrome diagnosed after proteinuria was detected during developmental examination 3 years after birth. External anomalies included ocular hypertelorism, saddle nose, elongated philtrum, tent-like lips, and low-set auricles. Mental retardation was evident. The karyotype was 46,XX,del(6) (p.22.1-p22.3) with an interstitial deletion. The kidneys showed no abnormality on imaging such as hydronephrosis, atrophy, or malformation. Examination of a renal biopsy specimen disclosed focal segmental glomerulosclerosis. No cardiac anomaly or Rieger anomaly, which often are present in this syndrome, were noted.

Maternal risk factors predicting child physical characteristics and dysmorphology in fetal alcohol syndrome and partial fetal alcohol syndrome

BackgroundPrevious research in South Africa revealed very high rates of fetal alcohol syndrome (FAS), of 46–89 per 1000 among young children. Maternal and child data from studies in this community summarize the multiple predictors of FAS and partial fetal alcohol syndrome (PFAS). MethodSequential regression was employed to examine influences on child physical characteristics and dysmorphology from four categories of maternal traits: physical, demographic, childbearing, and drinking. Then, a structural equation model (SEM) was constructed to predict influences on child physical characteristics. ResultsIndividual sequential regressions revealed that maternal drinking measures were the most powerful predictors of a child's physical anomalies (R2=.30, p<.001), followed by maternal demographics (R2=.24, p<.001), maternal physical characteristics (R2=.15, p<.001), and childbearing variables (R2=.06, p<.001). The SEM utilized both individual variables and the four composite categories of maternal traits to predict a set of child physical characteristics, including a total dysmorphology score. As predicted, drinking behavior is a relatively strong predictor of child physical characteristics (β=0.61, p<.001), even when all other maternal risk variables are included; higher levels of drinking predict child physical anomalies. ConclusionsOverall, the SEM model explains 62% of the variance in child physical anomalies. As expected, drinking variables explain the most variance. But this highly controlled estimation of multiple effects also reveals a significant contribution played by maternal demographics and, to a lesser degree, maternal physical and childbearing variables.

Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22

The region 21q22 is considered crucial for the pathogenesis of both Down syndrome (DS) and the partial monosomy 21q syndrome. Haploinsufficiency of the RUNX-1 gene, mapping at 21q22 is responsible for a platelet disorder and causes predisposition to myelodysplastic syndrome (MDS). We describe a 3-year-old girl with mental retardation, congenital heart malformation, and subtle dysmorphic facial features. The patient developed thrombocytopenia when she was 2 years old. Bone marrow smear led to the diagnosis of myelodysplasia. Prenatal karyotyping had shown chromosome 21 pericentric inversion. Postnatally the array-CGH revealed duplication at bands 21q11.2-21q21.1 and a simultaneous deletion involving the region 21q22.13-21q22.3. RUNX-1 mRNA levels analyzed in patient's skin fibroblasts were reduced. In this child the monosomy of the region 21q22 likely had the main role in determining the phenotype. Although the RUNX-1 gene is localized outside the deleted region, we speculate that RUNX-1 reduced expression, is probably due to the deletion of regulatory factors and caused the hematologic disorder in the patient. The present report underlines also the importance of array-CGH in characterizing patients with a complex phenotype.

A computational model of the LGI1 protein suggests a common binding site for ADAM proteins.

Mutations of human leucine-rich glioma inactivated (LGI1) gene encoding the epitempin protein cause autosomal dominant temporal lateral epilepsy (ADTLE), a rare familial partial epileptic syndrome. The LGI1 gene seems to have a role on the transmission of neuronal messages but the exact molecular mechanism remains unclear. In contrast to other genes involved in epileptic disorders, epitempin shows no homology with known ion channel genes but contains two domains, composed of repeated structural units, known to mediate protein-protein interactions.A three dimensional in silico model of the two epitempin domains was built to predict the structure-function relationship and propose a functional model integrating previous experimental findings. Conserved and electrostatic charged regions of the model surface suggest a possible arrangement between the two domains and identifies a possible ADAM protein binding site in the β-propeller domain and another protein binding site in the leucine-rich repeat domain. The functional model indicates that epitempin could mediate the interaction between proteins localized to different synaptic sides in a static way, by forming a dimer, or in a dynamic way, by binding proteins at different times.The model was also used to predict effects of known disease-causing missense mutations. Most of the variants are predicted to alter protein folding while several other map to functional surface regions. In agreement with experimental evidence, this suggests that non-secreted LGI1 mutants could be retained within the cell by quality control mechanisms or by altering interactions required for the secretion process.

17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome

We report the case of a 26-month-old boy with mental retardation, facial dysmorphism, childhood feeding difficulties, short stature, bilateral cryptorchidism, micropenis, and heart defect. Endocrinal evaluation revealed complete growth hormone deficiency (GHD) and gonadotropic deficiency, and pituitary magnetic resonance imaging showed partial pituitary stalk interruption syndrome (PSIS). A de novo 493 kb microdeletion on chromosome 17q21.31 was identified using array comparative genomic hybridization (array-CGH) analysis. This is the first report of PSIS in the phenotypical spectrum of 17q21.31 microdeletion syndrome, although other midline abnormalities have previously been described.Our report suggests that GHD should be investigated in patients with 17q21.31 microdeletion syndrome and short stature, defined by a body height below - 2 standard deviation scores (SDS) for age and sex. This finding also opens new avenues of research on the etiopathogenesis of PSIS, for which the genetic mechanisms remain unknown.