Novel three missense mutations observed in Von Hippel-Lindau gene in a patient reported with renal cell carcinoma

Von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary cancer syndrome that predisposes to the development of a variety of benign and malignant tumors, especially cerebellar hemangioblastomas, retinal angiomas and clear-cell renal cell carcinomas (RCC). We have identified of VHL gene using immunohistochemistry in a patient who was diagnosed for RCC. In order to understand the involvement of mutation in the VHL gene exon 1 was amplified and sequenced (accession number: JX 401534). The sequence analysis revealed the presence of novel missense mutations c.194 C>T, c.239 G>A, c.278 G>A, c.319 C>G, c. 337 C > G leading to the following variations p.Ala 65 Val, p.Gly 80 Asp, p.Gly 93 Glu, p.Gln 107 Glu, p.Gln 113 Glu in the protein.     

Rehabilitation in paraneoplastic stiff-person syndrome – Case Report

We aimed to share our rehabilitation experience in a patient diagnosed with paraneoplastic Stiff-person syndrome(SPS). A 45-year-old female patient was admitted to neurology with the complaint of widespread painful contractions. EMG was evaluated in favor of SPS. Amphiphysin-antibody was +++ in CSF. Patients’ treatment was arranged and transferred to rehabilitation inpatient-clinic.The patient was included in the rehabilitation program of range of motion,stretching,strengthening, posture&walking exercises, balance&coordination exercises, 5 days/week for 3 months. The patient was screened for breast cancer, diagnosed with invasive breast carcinoma and underwent mastectomy. With the rehabilitation, the patient was mobilized first in the parallel-bar then with tripod-cane in the following months. Significant improvements were found in functional status and quality of life with control of spasticity and mobilization. Although the primary treatment of paraneoplastic SPS is cancer treatment, significant gains have been achieved with rehabilitation. It is necessary to raise awareness of the importance of rehabilitation to physicians who diagnose the disease.     

Vibration assisted rehabilitation in patients with Pompe disease: A case series

The results of three cases with infantile-onset Pompe disease participating in a rehabilitation program with home-based vibration training will be presented. In this retrospective observational case study, the cases participated in the neuromuscular training program “Auf die Beine”, which combines two blocks of intensive, goal directed training with 6 months of home-based whole body vibration (WBV). Assessments by the means of a dual-energy X-ray absorptiometry and grip strength were applied at multiple points throughout the program. Two cases showed an increase in lean mass index of +0.319 kg/m², +0.721 kg/m² and bone mineral content of +0.028 kg/m², +0.031 kg/m² over one year. Additionally physiotherapeutic therapy goals could be achieved. In the remaining child lean mass index did not change, bone mineral content decreased by -0.03 kg. The neuromuscular rehabilitation program “Auf die Beine” has shown to be safe and effective in two of three cases for muscle and bone mass gain as well as in achievement of physiotherapeutic goals. To summarize, WBV is an innovative therapy in a rehabilitation concept, which might be helpful in Pompe disease, but further studies with larger cohorts are needed.     

Buschke-Ollendorff syndrome presenting with asymptomatic yellowish papules and leg length discrepancy: A case report

Buschke-Ollendorff syndrome (BOS) is a rare, usually benign, autosomal dominant genetic disease affecting about 0.005% globally. BOS commonly manifests with asymptomatic connective tissue nevi, sometimes with sclerotic bone lesions like osteopoikilosis or melorheostosis. However, BOS may develop severe, symptomatic complications that require surgical intervention. Here we report a 9-year-8-month girl presenting with multiple nonpruritic, nonpainful skin plaques scattered around the trunk, buttocks, and bilateral legs. She had a history of right varus foot with inadequate plantar flexion. Upon visiting, obvious leg length discrepancy (LLD) was noted. Lesional biopsy revealed increased fibroblasts within dermal collagen bundles. Verhoeff-van Gieson stain revealed scattered foci of thickened elastic fibers between collagen fibers, especially in the mid-dermis. Radiographic examination of the lower extremities showed multiple small, round-to-oval shaped, radiopaque spots on the pelvic bones, femurs, tibiae, and both feet. Hyperostosis along the long axis with “dripping candle wax” appearance was characteristic of osteopoikilosis and melorheostosis. Genetic analysis showed heterozygous point mutation in exon 1 of LEMD3 gene (c.1323C>A, p.Y441X), confirming diagnosis of BOS. Sequential and epiphyseodesis were performed to correct LLD with a favorable outcome at 2-year follow-up. BOS associated with severe bone abnormalities is rare, but orthopedic surgical intervention can provide satisfactory outcome.     

Amniotic band syndrome in a rhesus monkey: a case report

A rhesus monkey fetus was examined by ultrasound at 110, 111, and 113 gestational days (GD) and showed features suggestive of Amniotic Band Syndrome (ABS). These included an unusual craniofacial configuration, cortical distortion, asymmetrical hydrocephalus, a right occipital porencephalic cyst, and hydropic membranes with several free strands attached to the fetal head, neck, and scapular regions. The fetus remained fixed in the same position with the head retroflexed during each consecutive exam. A hysterotomy was performed and ABS was confirmed.     

Bradyarrhythmias in patients with COVID-19: A case series

Novel coronavirus disease (COVID-19) can have variety of cardiac manifestations; however, less is known about the prevalence, clinical characteristics and outcomes of bradyarrhythmias in patients with COVID-19. In the present case series of bradyarrhythmia in patients with COVID-19, we report complete heart block requiring intervention in 5 patients and sinus node dysfunction in 2 patients.     

A Novel pacing option in patients with endomyocardial fibrosis: A case series

Endomyocardial fibrosis (EMF) is characterized by fibrous tissue deposition on the endocardial surface leading to impaired filling of one or both ventricles, resulting in either right or left heart failure or both. Although Sinus node dysfunction and tachyarrhythmia - atrial fibrillation, ventricular tachycardia, have been commonly reported, complete heart block (CHB) necessitating a pacemaker is rare in EMF. Transvenous pacing is technically limited by fibrotic obliteration of the affected ventricle that results in poor lead parameters, and alternative pacing strategy like epicardial pacing may be required in many. We report three cases of EMF, who were treated with an alternative pacing strategy.     

Apert syndrome with omphalocele: A case report

Apert syndrome is a genetic disorder known as acrocephalopolysyndactyly type 1 caused by mutations in the fibroblast growth factor receptor 2 and characterized by coronal craniosynostosis, symmetric bone and skin syndactyly of hands and feet, and craniofacial dysmorphic features. The estimated prevalence of this syndrome is 10 to 15.5 cases per 1,000,000 live births. Apert syndrome has considerable clinical variability. We present a case of Apert syndrome and associated features reported to the National Registry of Congenital Anomalies of Argentina (RENAC). The reported case had omphalocele, esophageal atresia, and mega cisterna magna. The last two signs were reported several times as part of the clinical presentation of Apert syndrome. To our knowledge, this is the second reported case diagnosed with Apert syndrome associated with omphalocele. Birth Defects Research (Part A), 100:726–729, 2014. © 2014 Wiley Periodicals, Inc.     

Bioacoustics for species management: two case studies with a Hawaiian forest bird

The management of animal endangered species requires detailed information on their distribution and abundance, which is often hard to obtain. When animals communicate using sounds, one option is to use automatic sound recorders to gather information on the species for long periods of time with low effort. One drawback of this method is that processing all the information manually requires large amounts of time and effort. Our objective was to create a relatively “user‐friendly” (i.e., that does not require big programming skills) automatic detection algorithm to improve our ability to get basic data from sound‐emitting animal species. We illustrate our algorithm by showing two possible applications with the Hawai'i ‘Amakihi, Hemignathus virens virens, a forest bird from the island of Hawai'i. We first characterized the ‘Amakihi song using recordings from areas where the species is present in high densities. We used this information to train a classification algorithm, the support vector machine (SVM), in order to identify ‘Amakihi songs from a series of potential songs. We then used our algorithm to detect the species in areas where its presence had not been previously confirmed. We also used the algorithm to compare the relative abundance of the species in different areas where management actions may be applied. The SVM had an accuracy of 86.5% in identifying ‘Amakihi. We confirmed the presence of the ‘Amakihi at the study area using the algorithm. We also found that the relative abundance of ‘Amakihi changes among study areas, and this information can be used to assess where management strategies for the species should be better implemented. Our automatic song detection algorithm is effective, “user‐friendly” and can be very useful for optimizing the management and conservation of those endangered animal species that communicate acoustically.     

Fluctuating dental asymmetry: A measure of developmental instability in Down syndrome

Subjects with Down syndrome provide a useful model for investigating the effect of chromosomal aneuploidy on developmental pathways. Studies suggest that a major effect of trisomy is a decrease in developmental stability. The present study examines fluctuating dental asymmetry in Down syndrome. Mesiodistal crown diameters were measured from dental casts of 114 Down syndrome subjects. Correlation coefficients for antimeric permanent teeth served as an index of dental asymmetry. These values were compared with normal values obtained from the literature. Fluctuating dental asymmetry is thought to reflect the relative success of developmental homeostasis in countering developmental disturbances. Down syndrome subjects have significantly increased dental asymmetry. In addition, they show a disproportionate increase in dental asymmetry for those teeth reported to have the least developmental stability. These results support the contention that the chromosomal imbalance in Down syndrome results in amplified developmental instability.     

Assessment of trace elements in critically ill patients with systemic inflammatory response syndrome: A systematic review

BackgroundZinc (Zn), copper (Cu), and selenium (Se) are involved in immune and antioxidant defense. Their role in systemic inflammatory response syndrome (SIRS) treatment and outcomes remains unclear. This systematic review aimed to describe trace element concentrations in different types of biological samples and their relationship with morbidity and mortality in patients with SIRS. Methods: Literature was systematically reviewed according to the preferred reporting items for systematic reviews and meta-analyses (PRISMA). The search results were screened and evaluated for eligibility, and data were extracted and summarized in tables and figures. Results: Most of the 38 included studies evaluated Se (75%), followed by Zn (42%) and Cu (22%). Plasma was the main biological sample evaluated (58%). Thirteen studies found lower plasma/serum concentrations of Zn, Se, and Cu in SIRS patients than in controls upon admission, 11 studies on adults (intensive care unit-ICU) and two in pediatric ICU (PICU). Three ICU studies found no difference in erythrocyte trace element concentrations in patients with SIRS. In all studies, the two main outcomes investigated were organ failure and mortality. In seven ICU studies, patients with lower plasma or serum Zn/Se levels had higher mortality rates. A study conducted in the PICU reported an association between increased Se variation and lower 28-day mortality. In an ICU study, lower erythrocyte selenium levels were associated with higher ICU/hospital mortality, after adjustment. Five ICU studies associated lower plasma/serum Zn/Se levels with higher organ failure scores and one PICU study showed an association between higher erythrocyte Se levels and lower organ dysfunction scores. Conclusion: There was no difference in erythrocyte Se levels in patients with SIRS. Serum/Plasma Zn and serum/plasma/erythrocyte Se are associated with organ dysfunction, mortality, and inflammation. Trace element deficiencies should be diagnosed by erythrocyte, or complementary measurements in the presence of inflammation.     

Identification of one novel causative mutation in exon 4 of WFS1 gene in two Italian siblings with classical DIDMOAD syndrome phenotype

The aim of the present paper is to describe a novel missense mutation (G107R) of WFS1 gene that was unexpectedly detected, in two siblings from Southern Italy, outside exon 8; a very unusual finding which has previously been reported only twice in Italian patients with Wolfram syndrome (WS). Although in Spanish pedigrees' WFS1 mutations are frequently located in exon 4, this finding is very infrequent in other pedigrees, particularly in Italian patients. Conclusions: a) our report of two siblings with one novel WSF1 mutation (G107R) expands the molecular spectrum of WS; b) this is the 3rd report of Italian patients harbouring one mutation outside exon 8 and the 2nd with one mutation in exon 4; c) on the basis of the present observations, and literature data we can infer that mutation locations outside exon 8 do not seem to be clearly associated with peculiar phenotype expressions of WFS1 gene.     

Wildervanck syndrome with hypoplastic frontal sinus: A rare case presentation

We report a case of Wildervanck syndrome exhibiting Klippel–Feil anomaly, Duane''s retraction syndrome and congenital deafness. Since the first case was reported in 1952, there have been more reports describing this triad either complete or incomplete. Our case has a complete triad of the syndrome along with frontal sinus hypoplasia. Our case is unique as the triad was associated with frontal sinus hypoplasia, which is very rare association.     

Clinical impact of B-cell depletion with the anti-CD20 antibody rituximab in chronic fatigue syndrome: a preliminary case series

Background  

Chronic fatigue syndrome (CFS) is a disease of unknown aetiology. A patient with CFS had unexpected, marked recovery of CFS symptoms lasting for five months during and after cytotoxic chemotherapy for Hodgkin's disease. We reasoned that the transient CFS recovery was related to methotrexate treatment, which induces immunomodulation in part through B-cell depletion.     

Endophthalmitis caused by Fusarium: An emerging problem in patients with corneal trauma. A case series

Background

Although fortunately very rare in countries with a temperate climate, certain factors, such as clinical or pharmacological immunosuppression, may cause Fusarium-related fungal infections to become an emerging problem. Moreover, Fusarium is one of the most important etiological agents in exogenous endophthalmitis, which is often favored by the disruption of the epithelial barriers.

Bars of bone on hip bones in antiquity. A differential diagnosis: Hereditary osteo-onychodysplasia (Fong's syndrome)

Roberts (1987) suggested that bone overgrowths on the ilia of three skeletons may be the result of an unusual occupation or possibly a rare anatomical variant. This note points out that very similar outgrowths, iliae horns, are a constant finding in a clinical syndrome, osteo-onychodysplasia. It is therefore probable that these thre, skeletons, including two from the same cemetery represent the first archaeological evedence for this rare hereditary condition.