PERIODIC PARALYSIS

2021 ◽  
Vol 19 (4) ◽  
pp. 457-461
Author(s):  
Е. V. Onegin ◽  
◽  
O. V. Mantsevich ◽  
Keyword(s):  
Autosomal Dominant ◽  
Case Reports ◽  
Treatment Options ◽  
Neuromuscular Disorder ◽  
Periodic Paralysis ◽  
Dominant Inheritance ◽  
Patient Case ◽  
Treatment Interventions ◽  
Sodium Calcium ◽  
Low Prevalence

Periodic paralysis (paroxysmal myoplegia) is a rare neuromuscular disorder caused by mutations in the sodium, calcium, and potassium channel genes of skeletal muscle. Common features of primary periodic paralysis are autosomal dominant inheritance, changes in serum potassium levels as a result of a defect in ion channels, and the onset of the disease in the first or second decade of life. Clinically, PP is manifested by episodic attacks of muscle weakness that occur at irregular intervals, attacks are often associated with food or rest after exercise, sometimes accompanied by myotonia. Periodic paralysis is rare in the general population and, as a result, prospective clinical trials of treatment interventions are limited. Due to the low prevalence of primary PCBs and limited treatment options, few prospective studies are available to develop treatment recommendations based on anecdotal evidence and patient case reports. Treatment options include provocation prevention, potassium and carbonic anhydrase inhibitors.

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: Case Reports and Discussion of the Literature

2015 ◽  
Vol 39 (2) ◽  
pp. 152-157 ◽  
Author(s):  
Joana De Sousa ◽  
Vipul Upadhyay ◽  
Peter Stone
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Case Reports ◽  
Dominant Inheritance ◽  
Genetic Studies ◽  
Intestinal Dysmotility ◽  
Autosomal Recessive Condition ◽  
Hypoperistalsis Syndrome ◽  
Autosomal Dominant Inheritance Pattern ◽  
Viable Treatment

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare intestinal dysmotility condition that also involves a dilated urinary bladder. It was believed to be an autosomal recessive condition, but genetic studies have suggested possibly an autosomal dominant inheritance pattern. Prenatal diagnosis can be challenging, but MRI and amniotic fluid/digestive fluid studies may be complementary investigations to improve diagnostic accuracy. Prognosis of MMIHS is generally poor and treatment is mostly supportive. To date, bowel transplantation remains the only viable treatment to restore bowel motility. Here we present two additional cases to contribute towards the scant literature on this condition.

scholarly journals Andersen-Tawil Syndrome Presenting with Complete Heart Block

2021 ◽  
Vol 8 (1) ◽  
pp. 151-154
Author(s):  
Karen Suetterlin ◽  
Roope Männikkö ◽  
Enrico Flossmann ◽  
Richa Sud ◽  
Doreen Fialho ◽  
...  
Keyword(s):  
Cardiac Involvement ◽  
Autosomal Dominant ◽  
Clinical Presentation ◽  
Neuromuscular Disorder ◽  
Periodic Paralysis ◽  
Cardiac Conduction ◽  
Diagnostic Challenge ◽  
Dysmorphic Features ◽  
First Case ◽  
Life Threatening

Andersen-Tawil syndrome (ATS) is a rare autosomal dominant neuromuscular disorder due to mutations in the KCNJ2 gene. The classical phenotype of ATS consists of a triad of periodic paralysis, cardiac conduction abnormalities and dysmorphic features. Episodes of either muscle weakness or cardiac arrhythmia may predominate however, and dysmorphic features may be subtle, masking the true breadth of the clinical presentation, and posing a diagnostic challenge. The severity of cardiac involvement varies but includes reports of life-threatening events or sudden cardiac death, usually attributed to ventricular tachyarrhythmias. We report the first case of advanced atrioventricular (AV) block in ATS and highlight clinical factors that may delay diagnosis.

scholarly journals Glucocorticoid-Induced Hypokalemic Periodic Paralysis after Short-Term Use of Tenofovir with Hypophosphatemia: A Case Report

Medicina ◽  
2021 ◽  
Vol 58 (1) ◽  
pp. 52
Author(s):  
Yujin Shin ◽  
Yonglee Kim ◽  
Kyong Young Kim ◽  
Jong Ha Baek ◽  
Soo Kyoung Kim ◽  
...  
Keyword(s):  
Case Report ◽  
Emergency Room ◽  
Muscle Power ◽  
Case Reports ◽  
Neuromuscular Disorder ◽  
Periodic Paralysis ◽  
Hypokalemic Periodic Paralysis ◽  
Short Term ◽  
Glucocorticoid Treatment ◽  
First Case

Hypokalemic periodic paralysis (HPP) is a neuromuscular disorder associated with muscular dysfunction caused by hypokalemia. There are various causes of HPPs and rarely, HPP appears to be relevant to tenofovir or glucocorticoid treatment. There have been several case reports of tenofovir-related nephrotoxicity or tenofovir-induced HPP. However, a case report of glucocorticoid-induced HPP in a patient using tenofovir temporarily has not been reported. Herein, we report a case of glucocorticoid-induced HPP with short-term use of tenofovir. A 28-year-old man visited the emergency room with decreased muscle power in all extremities (2/5 grade). In their past medical history, the patient was treated with tenofovir for two months for a hepatitis B virus infection. At the time of the visit, the drug had been discontinued for four months. The day before visiting the emergency room, betamethasone was administered at a local clinic for herpes on the lips. Laboratory tests showed hypokalemia, hypophosphatemia, and mild metabolic acidosis. However, urinalysis revealed no abnormal findings. Consequently, it can be postulated that this patient developed HPP by glucocorticoids after taking tenofovir temporarily. This is the first case report of glucocorticoid-induced HPP in a patient using tenofovir. Clinicians who prescribe tenofovir should be aware of HPP occurring when glucocorticoids are used.

scholarly journals Characteristics and Treatment Challenges of Non-Clear Cell Renal Cell Carcinoma

Cancers ◽  
2021 ◽  
Vol 13 (15) ◽  
pp. 3807
Author(s):  
Pierangela Sepe ◽  
Arianna Ottini ◽  
Chiara Carlotta Pircher ◽  
Andrea Franza ◽  
Melanie Claps ◽  
...  
Keyword(s):  
Renal Cell ◽  
Kinase Inhibitors ◽  
Clear Cell ◽  
Case Reports ◽  
Treatment Options ◽  
Single Agent ◽  
Growth Factor Receptor ◽  
Mtor Inhibitors ◽  
Cell Renal Cell Carcinoma ◽  
Clear Cell Rcc

Non-clear cell renal cell carcinomas (RCC) comprise several rare and poorly described diseases, often characterized by bad prognosis and with no standard treatments available. The gap in their clinical management is linked to the poor molecular characterization in handling the treatment of non clear-cell RCC with untailored therapies. Due to their rarity, non-clear RCC are in fact under-represented in prospective randomized trials. Thus, treatment choices are based on extrapolating results from clear cell RCC trials, retrospective data, or case reports. Over the last two decades, various options have been considered as the mainstay for the treatment of metastatic RCC (mRCC), including angiogenesis inhibitors, vascular endothelial growth factor receptor inhibitors, other tyrosine kinase inhibitors (TKIs), as well as MET inhibitors and mammalian targeting of rapamycin (mTOR) inhibitors. More recently, the therapeutic armamentarium has been enriched with immunotherapy, alone or in combination with targeted agents that have been shown to significantly improve outcomes of mRCC patients, if compared to TKI single-agent. It has been widely proven that non-clear cell RCC is a morphologically and clinically distinct entity from its clear cell counterpart but more knowledge about its biology is certainly needed. Histology-specific collaborative trials are in fact now emerging to investigate different treatments for non-clear cell RCC. This review summarizes pathogenetic mechanisms of non-clear cell RCC, the evolution of treatment paradigms over the last few decades, with a focus on immunotherapy-based trials, and future potential treatment options.

scholarly journals Effective variant filtering and expected candidate variant yield in studies of rare human disease

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Brent S. Pedersen ◽  
Joe M. Brown ◽  
Harriet Dashnow ◽  
Amelia D. Wallace ◽  
Matt Velinder ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Rare Disease ◽  
Genome Sequencing ◽  
Autosomal Dominant ◽  
De Novo ◽  
Autosomal Dominant Inheritance ◽  
Compound Heterozygous ◽  
Whole Genome ◽  
Dominant Inheritance ◽  
Family Based

AbstractIn studies of families with rare disease, it is common to screen for de novo mutations, as well as recessive or dominant variants that explain the phenotype. However, the filtering strategies and software used to prioritize high-confidence variants vary from study to study. In an effort to establish recommendations for rare disease research, we explore effective guidelines for variant (SNP and INDEL) filtering and report the expected number of candidates for de novo dominant, recessive, and autosomal dominant modes of inheritance. We derived these guidelines using two large family-based cohorts that underwent whole-genome sequencing, as well as two family cohorts with whole-exome sequencing. The filters are applied to common attributes, including genotype-quality, sequencing depth, allele balance, and population allele frequency. The resulting guidelines yield ~10 candidate SNP and INDEL variants per exome, and 18 per genome for recessive and de novo dominant modes of inheritance, with substantially more candidates for autosomal dominant inheritance. For family-based, whole-genome sequencing studies, this number includes an average of three de novo, ten compound heterozygous, one autosomal recessive, four X-linked variants, and roughly 100 candidate variants following autosomal dominant inheritance. The slivar software we developed to establish and rapidly apply these filters to VCF files is available at https://github.com/brentp/slivar under an MIT license, and includes documentation and recommendations for best practices for rare disease analysis.

scholarly journals Diagnosis and treatment of neurogenic dysphagia – S1 guideline of the German Society of Neurology

2021 ◽  
Vol 3 (1) ◽  
Author(s):  
Rainer Dziewas ◽  
Hans-Dieter Allescher ◽  
Ilia Aroyo ◽  
Gudrun Bartolome ◽  
Ulrike Beilenhoff ◽  
...  
Keyword(s):  
Neurological Diseases ◽  
Treatment Options ◽  
German Society ◽  
Diagnosis And Treatment ◽  
Dietary Interventions ◽  
Neurogenic Dysphagia ◽  
Treatment Interventions ◽  
Term Care ◽  
High Resolution Manometry ◽  
Clinical Scenarios

Abstract Introduction Neurogenic dysphagia defines swallowing disorders caused by diseases of the central and peripheral nervous system, neuromuscular transmission, or muscles. Neurogenic dysphagia is one of the most common and at the same time most dangerous symptoms of many neurological diseases. Its most important sequelae include aspiration pneumonia, malnutrition and dehydration, and affected patients more often require long-term care and are exposed to an increased mortality. Based on a systematic pubmed research of related original papers, review articles, international guidelines and surveys about the diagnostics and treatment of neurogenic dysphagia, a consensus process was initiated, which included dysphagia experts from 27 medical societies. Recommendations This guideline consists of 53 recommendations covering in its first part the whole diagnostic spectrum from the dysphagia specific medical history, initial dysphagia screening and clinical assessment, to more refined instrumental procedures, such as flexible endoscopic evaluation of swallowing, the videofluoroscopic swallowing study and high-resolution manometry. In addition, specific clinical scenarios are captured, among others the management of patients with nasogastric and tracheotomy tubes. The second part of this guideline is dedicated to the treatment of neurogenic dysphagia. Apart from dietary interventions and behavioral swallowing treatment, interventions to improve oral hygiene, pharmacological treatment options, different modalities of neurostimulation as well as minimally invasive and surgical therapies are dealt with. Conclusions The diagnosis and treatment of neurogenic dysphagia is challenging and requires a joined effort of different medical professions. While the evidence supporting the implementation of dysphagia screening is rather convincing, further trials are needed to improve the quality of evidence for more refined methods of dysphagia diagnostics and, in particular, the different treatment options of neurogenic dysphagia. The present article is an abridged and translated version of the guideline recently published online (https://www.awmf.org/uploads/tx_szleitlinien/030-111l_Neurogene-Dysphagie_2020-05.pdf).

scholarly journals Squamous cell carcinoma of the scrotum in HIV: two case reports

2021 ◽  
Vol 27 (1) ◽  
Author(s):  
Jeff John ◽  
Ken Kesner ◽  
John Lazarus
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Case Reports ◽  
Treatment Options ◽  
Punch Biopsy ◽  
Delayed Treatment ◽  
Clinical Presentations ◽  
T1 N0 M0

Abstract Background Squamous cell carcinoma (SCC) of the scrotum was the first malignancy known to be associated with exposure to an occupational carcinogen—in this case, soot trapped in the breeches of chimney sweeps. Better civil rules and regulations and the replacement of hearths with other forms of heating have rendered SCC of the scrotum a rarity. We report two cases of scrotal SCC with vastly differing clinical presentations and management. Case presentation Case 1 had T1 N0 M0 disease and presented with a small (< 2 cm), innocuous-looking, non-healing ulcer of eight years duration. A punch biopsy revealed a superficially invasive SCC confirmed on immunohistochemical profiling. A wide local excision of the lesion was subsequently performed. Follow-up at three years showed no signs of recurrence. Case 2 presented with T4 N1 M1 disease and rapidly progressing locally destructive mass. A punch biopsy of the scrotal lesion confirmed invasive moderately differentiated focally keratinising SCC. The metastatic evaluation confirmed the presence of metastatic, extensive para-aortic lymphadenopathy. He was managed with cisplatin-based chemoradiotherapy. Conclusion Early detection and management of patients with SCC of the scrotum are essential. If the diagnosis is delayed, treatment options become limited, and the prognosis is poor. Notwithstanding the rarity of this disease, multicentre trials are needed to provide more precise guidelines as to the optimal management of these patients.

scholarly journals Management of Amelogenesis Imperfecta in Childhood: Two Case Reports

2021 ◽  
Vol 18 (13) ◽  
pp. 7204
Author(s):  
Mirja Möhn ◽  
Julia Camilla Bulski ◽  
Norbert Krämer ◽  
Alexander Rahman ◽  
Nelly Schulz-Weidner
Keyword(s):  
Case Reports ◽  
Treatment Options ◽  
Permanent Dentition ◽  
Amelogenesis Imperfecta ◽  
Structural Defects ◽  
Type I ◽  
Oral Rehabilitation ◽  
Self Confidence ◽  
Health Quality ◽  
Masticatory System

Amelogenesis imperfecta (AI) is defined as an interruption of enamel formation due to genetic inheritance. To prevent malfunction of the masticatory system and an unaesthetic appearance, various treatment options are described. While restoration with a compomer in the anterior region and stainless steel crowns in the posterior region is recommended for deciduous dentition, the challenges when treating such structural defects in mixed or permanent dentition are changing teeth and growing jaw, allowing only temporary restoration. The purpose of this case report is to demonstrate oral rehabilitation from mixed to permanent dentition. The dentition of a 7-year-old patient with AI type I and a 12-year-old patient with AI type II was restored under general anesthesia to improve their poor aesthetics and increase vertical dimension, which are related to problems with self-confidence and reduced oral health quality of life. These two cases show the complexity of dental care for structural anomalies of genetic origin and the challenges in rehabilitating the different phases of dentition.

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