A phenotypically severe,biochemically “silent” case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing

3‐Hydroxyisobutyryl‐CoA dehydrogenase (HIBCH) deficiency is a rare error in valine catabolism associated with a Leigh syndrome‐like phenotype, mitochondrial dysfunction, and increased C4‐OH. We report the most severe case to date in a full‐term female who presented with poor feeding and nystagmus on day of life (DOL) 1. Although initial neuroimaging findings were concerning for metabolic disease, further metabolic testing was nondiagnostic and she was discharged on DOL 18. She was readmitted on DOL 22 after severe apneic episodes requiring intubation, with EEG demonstrating multifocal seizures and MRI/MRS demonstrating worsening findings. Care was withdrawn DOL 27 and she expired. Rapid whole exome sequencing (WES) demonstrated compound heterozygous variants in HIBCH with a paternal pathogenic variant (c.852delA, p.L284FfsX10 ) and a maternal likely pathogenic variant (c.488G>T, p.C163F). Fibroblast enzymatic testing demonstrated marked reduction in HIBCH levels. This case demonstrates the importance of rapid WES and follow‐up functional testing in establishing a diagnosis when metabolic disease is suspected but lacks an expected biochemical signature.     

Coincidental diagnosis of tuberculous lymphadenitis: a case report

The aim of this case report was to present a case of multiple calcified tuberculous lymph nodes found on a panoramic radiograph coincidently diagnosed in an endodontic clinic. A detailed discussion on the differential diagnosis of similar such calcification found in the same region is also presented. A 14‐year‐old girl was referred to our department with the complaint of painless swelling in the left side of the lower jaw. Clinical and radiographical examinations were performed, leading to the initial diagnosis of chronic periapical abscess. The patient's medical history was re‐evaluated. Advanced imaging and excisional biopsy were performed in order to confirm the final diagnosis. Regarding the presenting signs and symptoms of bilateral carious mandibular molars, a periapical inflammatory process was considered in the provisional diagnosis. A thorough examination and investigations were suggestive of cervical tuberculous lymphadenitis (scrofula), and the patient underwent excision of the same. The clinician should consider the possibility of chronic granulomatous inflammatory lesions in the differential diagnosis of radiopaque lesions.     

Intrathoracic anastomosis after oesophageal resection for cancer

Cervical anastomosis has been advocated to avoid the pulmonary complications and life-threatening anastomotic disruptions following intrathoracic oesophagogastric anastomosis. This is a retrospective review of 111 oesophageal resections followed by an intrathoracic anastomosis. These resections were performed between September 1993 and August 1994 within a residency training program. The left thoracoabdominal approach was used for distal tumours and the Ivor Lewis technique for more proximal tumours. Squamous cell carcinoma accounted for 72% patients (n = 80), adenocarcinoma for 25% (n = 28), and others for 2.7% patients (n = 3). Of the patients, 69% had pathologic Stage III tumours. Operative mortality rate was 1.8% (two patients). Perioperative complications occurred in 39 patients, including anastomotic leak in 10 patients and myocardial infarction in 2 patients. In the absence of a leak, there were no major pulmonary complications requiring intensive care or ventilatory support. Of those patients with anastomotic disruption, 89% were salvaged by early clinical diagnosis and appropriate treatment. We conclude that transthoracic oesophagectomy with an intrathoracic anastomosis is a safe procedure that can be performed with low mortality and acceptable morbidity. © 1996 Wiley-Liss, Inc.     

A novel SNCA E83Q mutation in a case of dementia with Lewy bodies and atypical frontotemporal lobar degeneration

In this case report, we discuss a patient presenting with parkinsonism followed by a non-amnestic dementia with aphasic clinical features, as well as frontal dysexecutive syndrome. There was a family history of dementia with an autopsy diagnosis of “Pick's disease” in the proband's father. Neuroimaging of the patient revealed focal and severe temporal lobe and lesser frontoparietal lobe atrophy. At autopsy, there was severe frontotemporal lobar degeneration. Histologic evaluation revealed an absence of tau or transactivation response DNA-binding protein of 43 kDa (TDP) pathology but rather severe Lewy body deposition in the affected cortices. Genetic phenotyping revealed a novel missense mutation (p.E83Q) in exon 4 of the gene encoding α-synuclein (SNCA). This case study presents a patient with a novel SNCA E83Q mutation associated with widespread Lewy body pathology with prominent severe atrophy of the frontotemporal lobes and corresponding cognitive impairment.     

Sensitivity of protein and RNA synthesis to antiamoebic drugs in axenic Entamoeba histolytica (NIH-200)

The action of antiamoebic drugs on the incorporation of (14C) 1-DL-valine and (14C)-8 adenine in TCA insoluble fraction of axenic Entamoeba histolytica was investigated. Adenine showed greater sensitivity to all the drugs tested viz. camoquin, chloroquine, diodoquin, metronidazole, entobex and diloxanide furoate except enterovioform.     

A Comparative Evaluation of Dimensional Accuracy and Surface Detail Reproduction of Four Hydrophilic Vinyl Polysiloxane Impression Materials Tested Under Dry,Moist, and Wet Conditions-An In Vitro Study

Vinyl polysiloxane (VPS) impression materials have application in a wide variety of situations in both fixed and removable prosthodontics. A major limitation of VPS impression materials is their hydrophobicity. There are two aspects of this problem, the wettability of the polymerized impression by dental gypsum materials and the ability of the unpolymerized material to wet intraoral tissues. To address this problem, manufacturers have added surfactants and labelled these new products as “hydrophilic vinyl polysiloxane.” The purpose of this study was to evaluate and compare dimensional accuracy and surface detail reproduction of four hydrophilic VPS impression materials, when used under dry, moist, and wet conditions. A total of 180 samples were made of stainless steel die similar to as described in ADA sp. no. 19. The die was scored with three horizontal and two vertical lines. Impressions were made under dry, moist and wet conditions. Dimensional accuracy was measured by comparing the length of the middle horizontal line in each impression to the same line on the metal die, by using Universal Length Measuring machine. A 2-way ANOVA was performed on the percentage change data for measured lengths of the 4 impression materials under the 3 conditions to evaluate dimensional accuracy. Surface detail was evaluated in two ways: (1) by use of criteria similar to ADA sp. no. 19 for detail reproduction, and (2) by use of a method that categorized the impressions as satisfactory or unsatisfactory based on their surface characteristics: presence of pits, voids, or roughness. Pearson X2 (α = 0.05) was used to compare surface detail reproduction results. Conditions (dry, moist, and wet) did not cause significant adverse effects on the dimensional accuracy of all the four material. With both surface detail analyses, dry, moist, and wet conditions had a significant effect on the detail reproduction of all the four materials (P < 0.05). The study concluded that the dimensional accuracy of all the four impression materials tested was well within ADA standards. Best surface detail results were obtained only under dry conditions for all the four materials.