scholarly journals Favorable response to carbamazepine therapy in genetically proven myoclonus-dystonia child

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Mohammed F. Aljabri ◽  
Naglaa M. Kamal ◽  
Abdulrhman Alghamdi ◽  
Hamdan Alghamdi ◽  
Naif Alomairi

Abstract Background Myoclonus dystonia (MDS) is a dominantly inherited genetic disorder caused by loss-of-function mutations in the epsilon sarcoglycan gene (SGCE). Case presentation We here in report a twenty months old Saudi boy who presented to us with a concern that the child is unable to walk properly. On assessment, he was flexing his left arm and left leg that usually followed by a back-ward fall. Diagnosis of dystonia induced with initiation of movement was suggested that later on proven genetically to be pathogenic mutation of sarcoglycan gene. Carbamazepine therapy was initiated with dramatic response. Response was maintained at 4 years follow up. Conclusions Our patient and the other previously reported cases might highlight the response of SGCE mutations to carbamazepine therapy.

Author(s):  
Motahareh Sheikh-Hosseini ◽  
Mohammad Moarefzadeh ◽  
Hamideh Alavi-Moghaddam ◽  
Saeid Morovvati

AbstractAicardi–Goutières' syndrome (AGS) is a rare heterogeneous genetic disorder characterized by encephalopathy and may bear resemblance to congenital infections. The prevalence of AGS is estimated at more than 4,000 worldwide. Mutations in TREX1 gene are present in ∼22% of patients. We present the case of a 2-year-old boy who came to the Biogene laboratory (Tehran, Iran) with a constellation of congenital disorders but no clear diagnosis. His clinical phenotype consisted of neonatal jaundice, relative microcephaly with diffuse cerebral atrophy in both hemispheres, developmental delay, hypotonia, and nystagmus. There was history of parental consanguineous marriage and prematurity. In our study, a homozygous potentially pathogenic mutation in TREX1 gene associated with AGS1 was detected. This mutation has not been reported in the other patients with AGS. A novel frameshift homozygous potentially pathogenic mutation in TREX1 is postulated to be the cause of disease in our patient.


Author(s):  
Magdalena Budisteanu ◽  
Andreea Tutulan-Cunita ◽  
Ina Ofelia Focsa ◽  
Sorina Mihaela Papuc ◽  
Aurora Arghir

Phelan-McDermid (PMS) or 22q13 deletion syndrome (OMIM 606232) is a rare genetic disorder with highly variable clinical presentation. The phenotype includes generalized neonatal hypotonia, developmental delay with intellectual disability and delayed speech, mild dysmorphic features, and autistic behavior. The genetic defects of PMS consist of 22q13.3 deletions or chromosomal structural rearrangements involving SHANK3 gene; the loss of function mutations of SHANK3 gene was reported in a minority of cases. The 22q13.3 deletions vary in size, from 0.2 to over 9 Mb, and, although larger deletions are generally associated with more severe phenotypes, the genotype-phenotype correlations are not clear-cut for all patients. SHANK3 is considered the main candidate gene for the neurologic features of PMS. PMS is a rare disorder, often underdiagnosed. There are no established clinical diagnostic criteria for PMS. The genetic tests typically used are chromosomal microarray and multiplex ligation-dependent probe amplification (MLPA) or fluorescent in situ hybridization (FISH) for copy number analysis of SHANK3 gene; next-generation sequencing (NGS) or Sanger sequencing is used for pathogenic mutation screening of SHANK3. In this chapter, we report three cases with PMS and summarize the clinical and genetic diagnostic approaches of this condition, highlighting the role of chromosomal microarray technology in the identification of rare, but significantly impacting patient’s life, DNA copy number abnormalities.


2020 ◽  
Vol 61 (12) ◽  
pp. 1784-1788
Author(s):  
Chiara Pavanello ◽  
Alice Ossoli ◽  
Marcello Arca ◽  
Laura D’Erasmo ◽  
Giuliano Boscutti ◽  
...  

Familial LCAT deficiency (FLD) is a rare genetic disorder of HDL metabolism, caused by loss-of-function mutations in the LCAT gene and characterized by a variety of symptoms including corneal opacities and kidney failure. Renal disease represents the leading cause of morbidity and mortality in FLD cases. However, the prognosis is not known and the rate of deterioration of kidney function is variable and unpredictable from patient to patient. In this article, we present data from a follow-up of the large Italian cohort of FLD patients, who have been followed for an average of 12 years. We show that renal failure occurs at the median age of 46 years, with a median time to a second recurrence of 10 years. Additionally, we identify high plasma unesterified cholesterol level as a predicting factor for rapid deterioration of kidney function. In conclusion, this study highlights the severe consequences of FLD, underlines the need of correct early diagnosis and referral of patients to specialized centers, and highlights the urgency for effective treatments to prevent or slow renal disease in patients with LCAT deficiency.


2018 ◽  
Vol 8 (2) ◽  
pp. 35-48
Author(s):  
Jiří Rybička ◽  
Petra Čačková

One of the tools to determine the recommended order of the courses to be taught is to set the prerequisites, that is, the conditions that have to be fulfilled before commencing the study of the course. The recommended sequence of courses is to follow logical links between their logical units, as the basic aim is to provide students with a coherent system according to the Comenius' principle of continuity. Declared continuity may, on the other hand, create organizational complications when passing through the study, as failure to complete one course may result in a whole sequence of forced deviations from the recommended curriculum and ultimately in the extension of the study period. This empirical study deals with the quantitative evaluation of the influence of the level of initial knowledge given by the previous study on the overall results in a certain follow-up course. In this evaluation, data were obtained that may slightly change the approach to determining prerequisites for higher education courses.


2021 ◽  
Vol 1 ◽  
pp. 2007-2016
Author(s):  
Yoram Reich ◽  
Eswaran Subrahmanian

AbstractDesign research as a field has been studied from diverse perspectives starting from product inception to their disposal. The product of these studies includes knowledge, tools, methods, processes, frameworks, approaches, and theories. The contexts of these studies are innumerable. The unit of these studies varies from individuals to organizations, using a variety of theoretical tools and methods that have fragmented the field, making it difficult to understand the map of this corpus of knowledge across this diversity.In this paper, we propose a model-based approach that on the one hand, does not delve into the details of the design object itself, but on the other hand, unifies the description of design problem at another abstraction level. The use of this abstract framework allows for describing and comparing underlying models of published design studies using the same language to place them in the right context in which design takes place and to enable to inter-relate them, to understand the wholes and the parts of design studies.Patterns of successful studies could be generated and used by researchers to improve the design of new studies, understand the outcome of existing studies, and plan follow-up studies.


2019 ◽  
Vol 25 (1) ◽  
Author(s):  
Danielle Whiting ◽  
Ian Rudd ◽  
Amit Goel ◽  
Seshadri Sriprasad ◽  
Sanjeev Madaan

Abstract Background Angiomyolipomas are rare mesenchymal tumours arising from the perivascular epithelioid cells consisting of variable amounts of adipose, thick-walled blood vessels and smooth muscle cells. These benign tumours commonly occur in the kidney with only a few case reports of adrenal angiomyolipomas which have the potential to reach a large size and haemorrhage. Case presentation A 45-year-old lady presented with a 3-week history of right loin pain, nausea and vomiting. A CT scan revealed a right adrenal angiomyolipoma measuring 6.3 × 6.8 cm with associated haemorrhage. The lesion was successfully treated with right open adrenalectomy, and histology confirmed the diagnosis of adrenal angiomyolipoma. The patient remained well with no evidence of recurrence at the 36-month follow-up. Conclusion Adrenal angiomyolipomas are rare benign tumours that have the ability to reach a large size and potential to bleed. Here, we report the second case of spontaneous haemorrhage in an adrenal angiomyolipoma, which was successfully treated with open adrenalectomy.


Author(s):  
Yimin Xie ◽  
Jinbo Ning

Abstract Background/Purpose The Nuss procedure is the most common surgical repair for pectus excavatum (PE). Surgical steel wires are used in some modifications of the Nuss procedure to attach one or both ends of a support bar to the ribs. During follow-up, wire breakage was found in some cases. Patients with wire breakage may undergo prolonged bar removal surgery and may be exposed to excessive radiation.In this study, we had a series of patients who received polydioxanone suture (PDS) fixations instead of steel wires. This retrospective study was conducted to explore the differences between these two fixation materials in the incidence of related complications and efficacies. Furthermore, we attempted to observe whether the two materials lead to similar surgical efficacy in the Nuss procedure, whether they have divergent effects on the bar removal surgery, and whether PDS can reduce the risks due to steel wire breakage as expected. Methods We retrospectively studied PDS and surgical steel wires as fixation materials for the Nuss procedure in children with congenital PE and reviewed the outcomes and complications. A total of 75 children who had undergone Nuss procedure repairs and bar removals from January 2013 to December 2019 were recruited to participate in this study. They were divided into three groups: the PDS group, the unbroken wire (UBW) group, and the broken wire (BW) group, according to the fixation materials and whether the wires had broken or not. Moreover, we selected the duration of operation (DO), intraoperative blood loss (BL), bar displacement (BD), postoperative pain score (PPS), and incision infection as the risk indicators and the postrepair Haller index (HI) as the effectiveness indicator. These indicators were statistically compared to determine whether there were differences among the three groups. Results One BD occurred in the PDS and BW groups while none took place in the UBW group. No incision infection was found in any of the groups. The PDS group had the shortest DO, while the DO in the UBW group was shorter than that in the BW group (p < 0.05). BL in the PDS group was less than that in the other two groups (p < 0.05). Additionally, no difference was observed in BL between the BW and UBW groups (p > 0.05). The PPS of the PDS group was less than that of the BW group (p < 0.05), whereas no differences were found between the other two groups. No statistical difference emerged in HI among the groups (p > 0.05). Conclusion PDS fixation results in a similar repair outcome and shows certain advantages in the DO, BL, and PPS; also, PDSs are safe and effective in the Nuss procedure. Level of evidence Level III.


2020 ◽  
pp. 1-4
Author(s):  
Valentina Orlando ◽  
Pietro Spennato ◽  
Maria De Liso ◽  
Vincenzo Trischitta ◽  
Alessia Imperato ◽  
...  

<b><i>Introduction:</i></b> Hydrocephalus is not usually part of Down syndrome (DS). Fourth ventricle outlet obstruction is a rare cause of obstructive hydrocephalus, difficult to diagnose, because tetraventricular dilatation may suggest a communicant/nonobstructive hydrocephalus. <b><i>Case Presentation:</i></b> We describe the case of a 6-year-old boy with obstructive tetraventricular hydrocephalus, caused by Luschka and Magen­die foramina obstruction and diverticular enlargement of Luschka foramina (the so-called fourth ventricle outlet obstruction) associated with DS. He was treated with endoscopic third ventriculostomy (ETV) without complications, and a follow-up MRI revealed reduction of the ventricles, disappearance of the diverticula, and patency of the ventriculostomy. <b><i>Conclusion:</i></b> Diverticular enlargement of Luschka foramina is an important radiological finding for obstructive tetraventricular hydrocephalus. ETV is a viable option in tetraventricular obstructive hydrocephalus in DS.


2021 ◽  
Vol 9 (7_suppl4) ◽  
pp. 2325967121S0020
Author(s):  
Michael Ryan ◽  
Benton Emblom ◽  
E. Lyle Cain ◽  
Jeffrey Dugas ◽  
Marcus Rothermich

Objectives: While numerous studies exist evaluating the short-term clinical outcomes for patients who underwent arthroscopy for osteochondritis dissecans (OCD) of the capitellum, literature on long-term clinical outcomes for a relatively high number of this subset of patients from a single institution is limited. We performed a retrospective analysis on all patients treated surgically for OCD of the capitellum at our institution from January 2001 to August 2018. Our hypothesis was that clinical outcomes for patients treated arthroscopically for OCD of the capitellum would be favorable, with improved subjective pain scores and acceptable return to play for these patients. Methods: Inclusion criteria for this study included the diagnosis and surgical treatment of OCD of the capitellum treated arthroscopically with greater than 2-year follow-up. Exclusion criteria included any surgical treatment on the ipsilateral elbow prior to the first elbow arthroscopy for OCD at our institution, a missing operative report, and/or any portions of the arthroscopic procedure that were done open. Follow-up was achieved over the phone by a single author using three questionnaires: American Shoulder and Elbow Surgeons – Elbow (ASES-E), Andrews/Carson KJOC, and our institution-specific return-to-play questionnaire. Results: After the inclusion and exclusion criteria were applied to our surgical database, our institution identified 101 patients eligible for this study. Of these patients, 3 were then excluded for incomplete operative reports, leaving 98 patients. Of those 98 patients, 81 were successfully contacted over the phone for an 82.7% follow-up rate. The average age for this group at arthroscopy was 15.2 years old and average post-operative time at follow-up was 8.2 years. Of the 81 patients, 74 had abrasion chondroplasty of the capitellar OCD lesion (91.4%) while the other 7 had minor debridement (8.6%). Of the 74 abrasion chondroplasties, 29 of those had microfracture, (39.2% of that subgroup and 35.8% of the entire inclusion group). Of the microfracture group, 4 also had an intraarticular, iliac crest, mesenchymal stem-cell injection into the elbow (13.7% of capitellar microfractures, 5.4% of abrasion chondroplasties, and 4.9% of the inclusion group overall). Additional arthroscopic procedures included osteophyte debridement, minor synovectomies, capsular releases, manipulation under anesthesia, and plica excisions. Nine patients had subsequent revision arthroscopy (11.1% failure rate, 5 of which were at our institution and 4 of which were elsewhere). There were also 3 patients within the inclusion group that had ulnar collateral ligament reconstruction/repair (3.7%, 1 of which was done at our institution and the other 2 elsewhere). Lastly, 3 patients had shoulder operations on the ipsilateral extremity (3.7%, 1 operation done at our institution and the other 2 elsewhere). To control for confounding variables, scores for the questionnaires were assessed only for patients with no other surgeries on the operative arm following arthroscopy (66 patients). This group had an adjusted average follow-up of 7.9 years. For the ASES-E questionnaire, the difference between the average of the ASES-E function scores for the right and the left was 0.87 out of a maximum of 36. ASES-E pain was an average of 2.37 out of a max pain scale of 50 and surgical satisfaction was an average of 9.5 out of 10. The average Andrews/Carson score out of a 100 was 91.5 and the average KJOC score was 90.5 out of 100. Additionally, out of the 64 patients evaluated who played sports at the time of their arthroscopy, 3 ceased athletic participation due to limitations of the elbow. Conclusions: In conclusion, this study demonstrated an excellent return-to-play rate and comparable subjective long-term questionnaire scores with a 11.1% failure rate following arthroscopy for OCD of the capitellum. Further statistical analysis is needed for additional comparisons, including return-to-play between different sports, outcome comparisons between different surgical techniques performed during the arthroscopies, and to what degree the size of the lesion, number of loose bodies removed or other associated comorbidities can influence long-term clinical outcomes.


2021 ◽  
Vol 27 (1) ◽  
Author(s):  
Jai Kumar ◽  
Mohammad Irfaan Albeerdy ◽  
Nadeem Ahmed Shaikh ◽  
Abdul Hafeez Qureshi

Abstract Background Peutz-Jeghers syndrome is an autosomal dominant disease characterized by mucocutaneous pigmentation and hamartomatous polyps in the gastrointestinal tract (GIT). There have also been cases of extra GIT polyps such as the renal pelvis, urinary bladder, lungs and nares. Bladder hamartoma is an extremely rare finding, with only 12 cases described in the literature up to now. The rarity of the condition necessitates a comprehensive compilation of managements up to now so as to provide a better tool for the treatment of such conditions in the future. Case presentation A twenty-year-old male, known to have Peutz-Jeghers syndrome, presented to us complaining of obstructive urinary symptoms. A urethrogram done showed a filling defect at the base of the urinary bladder. The mass was resected transurethrally, and histopathology revealed a hamartoma of the bladder. The patient has since remained tumor-free on follow-up. Conclusions Transurethral resection of the bladder mass proved to be an effective therapy in this patient with no recurrence on the patient’s follow-up till now. There is still, however, a dearth of knowledge regarding the management of bladder hamartomas owing to the extreme rarity of the case.


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