Recognizing Atypical Dopa-Responsive Dystonia and Its Mimics

ABSTRACTPurpose of ReviewDopa-responsive dystonia (DRD) encompasses a group of phenotypically and genetically heterogeneous neurochemical disorders. Classic GTP cyclohydrolase 1 (GCH-1)-associated DRD consists of early-onset lower limb asymetrical dystonia, with sleep benefit, diurnal variation, and excellent and sustained response to low L-dopa doses.Recent findingsUnlike the classic phenotype, GCH-1-associated DRD may include features inconsistent with the original phenotype. We describe a GCH-1-associated late-onset DRD case with family history of parkinsonism and cervical dystonia whose response to levodopa was poor and complicated with dyskinesia, blepharospasm and severe non-motor symptoms. We use this case as a springboard to review the spectrum of atypical DRD, DRD-plus and DRD mimics.SummaryGCH-1-related dystonia may exhibit wide intrafamilial phenotypic variability, no diurnal fluctuation, poor response to L-dopa, and such complications as dyskinesia, epilepsy, sleep disorders, autonomic dysfunction, oculogyric crisis, myoclonus, or tics. More recently, rare GCH-1 variants have been found to be associated with Parkinson's disease. Clinicians should be aware of atypical DRD, DRD-plus and DRD mimics.

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Two Novel KCNQ2 Mutations in 2 Families With Benign Familial Neonatal Convulsions

Child Neurology Open ◽

10.1177/2329048x17691396 ◽

2017 ◽

Vol 4 ◽

pp. 2329048X1769139 ◽

Cited By ~ 3

Author(s):

Ghalia Al Yazidi ◽

Michael I. Shevell ◽

Myriam Srour

Keyword(s):

Phenotypic Variability ◽

Intermediate Phenotype ◽

Psychomotor Development ◽

Epilepsy Syndrome ◽

Missense Mutations ◽

Clinical Presentations ◽

Gated Channel ◽

Neonatal Convulsions ◽

History Of ◽

Intrafamilial Phenotypic Variability

Benign familial neonatal convulsion is a rare autosomal dominant inherited epilepsy syndrome characterized by unprovoked seizures in the first few days of life, normal psychomotor development, and a positive intergenerational family history of neonatal seizures. Over 90% of the affected individuals have inherited causal mutations in KCNQ2, which encodes for the potassium voltage-gated channel subfamily Q, member 2. Mutations in KCNQ2 are also associated with a severe neonatal encephalopathy phenotype associated with poor seizure control and neurodevelopmental deficits. The authors report the clinical presentations, response to medication, and intrafamilial phenotypic variability in 2 families with benign familial neonatal convulsions, carrying previously unreported heterozygous missense mutations, c.1066C>G (p.Leu356Val) and c.1721G<A (p.Gly574Asp), in KCNQ2. The cases reported herein suggest that inherited missense mutations in KCNQ2 can be associated with an intermediate phenotype and illustrate the challenges associated with prognosis and counselling for individuals with inherited missense mutations in KCNQ2.

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An Obscure Colon Dilatation and its Underlying Cause: Case Report and Literature Review

10.31487/j.gscr.2020.01.03 ◽

2020 ◽

pp. 1-5

Author(s):

Anton Stift ◽

Kerstin Wimmer ◽

Felix Harpain ◽

Katharina Wöran ◽

Thomas Mang ◽

...

Keyword(s):

Case Report ◽

Sigmoid Colon ◽

Immunohistochemical Staining ◽

Late Onset ◽

Hirschsprung Disease ◽

Endoscopic Examination ◽

Case Presentation ◽

Idiopathic Megacolon ◽

History Of ◽

Cells Of Cajal

Introduction: Congenital as well as acquired diseases may be responsible for the development of a megacolon. In adult patients, Clostridium difficile associated infection as well as late-onset of Morbus Hirschsprung disease are known to cause a megacolon. In addition, malignant as well as benign colorectal strictures may lead to intestinal dilatation. In case of an idiopathic megacolon, the underlying cause remains unclear. Case Presentation: We describe the case of a 44-year-old male patient suffering from a long history of chronic constipation. He presented himself with an obscurely dilated large intestine with bowel loops up to 17 centimeters in diameter. Radiological as well as endoscopic examination gave evidence of a spastic process in the sigmoid colon. The patient was treated with a subtotal colectomy and the intraoperative findings revealed a stenotic stricture in the sigmoid colon. Since the histological examination did not find a conclusive reason for the functional stenosis, an immunohistochemical staining was advised. This showed a decrease in interstitial cells of Cajal (ICC) in the stenotic part of the sigmoid colon. Discussion: This case report describes a patient with an idiopathic megacolon, where the underlying cause remained unclear until an immunohistochemical staining of the stenotic colon showed a substantial decrease of ICCs. Various pathologies leading to a megacolon are reviewed and discussed.

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Formation and composition of training flax collection

Genetičnì resursi roslin (Plant Genetic Resources) ◽

10.36814/pgr.2020.26.06 ◽

2020 ◽

pp. 61-71

Author(s):

L.M. Kryvosheieva ◽

V.I. Chuchvaha ◽

N.M. Kandyba

Keyword(s):

Plant Breeding ◽

Gene Pool ◽

Phenotypic Variability ◽

Plant Genetic Resources ◽

Field Measurements ◽

Educational Process ◽

Educational Institutions ◽

Economic Traits ◽

Wide Range ◽

History Of

Aim. Based on the results of multi-year research into the flax gene pool, to form a flax training collection to provide breeding scientific organizations and educational institutions with collection samples as well as with information about the bast crop gene pool. Results and Discussion. The studies were conducted in the crop rotation fields for breeding and seed production of the Institute of Bast Crops of the NAAS (Hlukhiv, Sumska Oblast) in 1992-2018. The field measurements and laboratory analyses were carried out in accordance with conventional methods of field and laboratory studies of collection flax samples.The article presents the results on the formation of a training collection of flax at the Institute of Bast Crops of the NAAS, which has 117 accessions (11 botanical species and three varieties) from 22 countries. In addition to species diversity, the collection includes accessions with different levels of expression of valuable economic and biological characteristics. It also includes accessions selected by phenotypic variability of individual characters or their combinations. The multi-year research into the flax collection accessions resulted in identification of sources of highly-expressed valuable economic traits, which are of interest for the plant breeding course. The history of flax breeding in Ukraine is shown, where breeding varieties that are most widespread or were significant breeding achievements in solving certain problems, are presented. The collection can be used as a visual aid for the plant breeding course in educational programs; in addition, it can provide starting material for scientific and educational institutions. The collection is registered with the National Center for Plant Genetic Resources of Ukraine (certificate No. 00273 dated 04/11/2019). Conclusions. The studies of accessions from the national flax collection allowed us to build up a training collection and register it with the NCPGRU. The collection represents a wide range of biological and economic features of the gene pool of this crop. The collection can be used in the educational process of educational agricultural and biological institutions. The multi-year research into the national flax collection resulted in identification of sources of highly-expressed valuable economic traits, which are of interest to the plant breeding course. The history of flax breeding in Ukraine got covered, and breeding varieties that are most widespread or were significant breeding achievements in solving certain problems are presented.

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Sacral plexus disorder caused by a wooden toothpick in the rectum

BMJ Case Reports ◽

10.1136/bcr-2020-238690 ◽

2021 ◽

Vol 14 (1) ◽

pp. e238690

Author(s):

Takuro Endo ◽

Taku Sugawara ◽

Naoki Higashiyama

Keyword(s):

Lower Limb ◽

Spinal Nerve ◽

Leg Pain ◽

Sacral Plexus ◽

Lateral Recess ◽

Lateral Recess Stenosis ◽

Preoperative Ct ◽

History Of ◽

History Of Pain ◽

The Right

A 67-year-old man presented with a 2-month history of pain in his right buttock and lower limb. MRI depicted right L5/S1 lateral recess stenosis requiring surgical treatment; however, preoperative CT showed an approximately 7 cm long, thin, rod-shaped structure in the rectum, which was ultimately determined to be an accidentally ingested toothpick. It was removed surgically 6 days after diagnosis, because right leg pain worsened rapidly. The pain disappeared thereafter, and the symptoms have not recurred since. The pain might have been localised to the right buttock and posterior thigh in the early stages because the fine tip of the toothpick was positioned to the right of the anterior ramus of the S2 spinal nerve. Although sacral plexus disorder caused by a rectal foreign body is extremely rare, physicians should be mindful to avoid misdiagnosis.

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Objectivization of vacuum-compression therapy effects on micro- and macrovascular perfusion in type 2 diabetic patients

Biomedical Engineering / Biomedizinische Technik ◽

10.1515/bmt-2019-0066 ◽

2020 ◽

Vol 65 (4) ◽

pp. 469-476

Author(s):

Jaroslav Prucha ◽

Vladimir Socha ◽

Lenka Hanakova ◽

Andrej Lalis ◽

Karel Hana

Keyword(s):

Lower Limb ◽

Compression Therapy ◽

Neurological Complications ◽

Diabetic Patients ◽

Type 2 Diabetic Patients ◽

Therapeutic Procedures ◽

History Of ◽

Injury Recovery ◽

Type 2 Diabetic

AbstractThe present study aimed to evaluate the characteristic influence of physical therapeutic procedures of vacuum-compression therapy (VCT) on microvascular perfusion (MiP) and macrovascular perfusion (MaP) of the lower limb in diabetic patients. A sample of nine patients with a medical history of type 2 diabetes was used for the purpose of this study. Most of the subjects’ medical conditions included venous and neurological complications of the lower limb, whereas the rest of the subjects entered the treatment due to injury recovery or their phlebological disease. The PeriFlux System 5000 (Perimed, Sweden) diagnostic device was used to measure MiP. The MaP was evaluated based on the perfusion index (PI) using the Extremiter monitoring device (Embitron, Czech Republic) designed to perform VCT procedures. The study found that MiP and MaP increase as an effect of VCT procedures and at the same time PI clearly reflects the effect of the applied vacuum and compression phases, verifying the method’s vital influence on peripheral perfusion disorders.

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Generalization of memory-related brain function in asymptomatic older women with a family history of late onset Alzheimer's Disease: Results from the PREVENT-AD Cohort

Neurobiology of Aging ◽

10.1016/j.neurobiolaging.2021.03.009 ◽

2021 ◽

Author(s):

Sheida Rabipour ◽

Sricharana Rajagopal ◽

Stamatoula Pasvanis ◽

M. Natasha Rajah

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Family History ◽

Older Women ◽

Brain Function ◽

Late Onset ◽

History Of

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An intrafamilial phenotypic variability in Ellis‐Van Creveld syndrome due to a novel 27 bps deletion mutation

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.62360 ◽

2021 ◽

Author(s):

Ayesha Zaka ◽

Shaheen Shahzad ◽

Hadi Zahid Rao ◽

Sadia Kanwal ◽

Asma Gul ◽

...

Keyword(s):

Phenotypic Variability ◽

Deletion Mutation ◽

Ellis Van Creveld Syndrome ◽

Intrafamilial Phenotypic Variability

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Clinical, Pathological and Molecular Characteristics of Chilean Patients with Early-, Intermediate- and Late-Onset Colorectal Cancer

Cells ◽

10.3390/cells10030631 ◽

2021 ◽

Vol 10 (3) ◽

pp. 631

Author(s):

Karin Alvarez ◽

Alessandra Cassana ◽

Marjorie De La Fuente ◽

Tamara Canales ◽

Mario Abedrapo ◽

...

Keyword(s):

Colorectal Cancer ◽

Family History ◽

Age Of Onset ◽

Late Onset ◽

Molecular Characteristics ◽

Family History Of Cancer ◽

Molecular Features ◽

Age Of Diagnosis ◽

History Of ◽

History Of Cancer

Colorectal cancer (CRC) is the second most frequent neoplasm in Chile and its mortality rate is rising in all ages. However, studies characterizing CRC according to the age of onset are still lacking. This study aimed to identify clinical, pathological, and molecular features of CRC in Chilean patients according to the age of diagnosis: early- (≤50 years; EOCRC), intermediate- (51–69 years; IOCRC), and late-onset (≥70 years; LOCRC). The study included 426 CRC patients from Clinica Las Condes, between 2007 and 2019. A chi-square test was applied to explore associations between age of onset and clinicopathological characteristics. Body Mass Index (BMI) differences according to age of diagnosis was evaluated through t-test. Overall (OS) and cancer-specific survival (CSS) were estimated by the Kaplan–Meier method. We found significant differences between the age of onset, and gender, BMI, family history of cancer, TNM Classification of Malignant Tumors stage, OS, and CSS. EOCRC category was characterized by a family history of cancer, left-sided tumors with a more advanced stage of the disease but better survival at 10 years, and lower microsatellite instability (MSI), with predominant germline mutations. IOCRC has shown clinical similarities with the EOCRC and molecular similarities to the LOCRC, which agrees with other reports.

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Venipuncture Induced Complex Regional Pain Syndrome Presenting as Inflammatory Arthritis

Case Reports in Medicine ◽

10.1155/2016/8081401 ◽

2016 ◽

Vol 2016 ◽

pp. 1-4

Author(s):

Punit Pruthi ◽

Pramod Arora ◽

Manoj Mittal ◽

Anugrah Nair ◽

Waqia Sultana

Keyword(s):

Complex Regional Pain Syndrome ◽

Inflammatory Arthritis ◽

Young Male ◽

Pain Syndrome ◽

Poor Response ◽

History Of ◽

Diagnostic Modalities ◽

Musculoskeletal Ultrasonography ◽

The Right

Venipuncture is one of the most commonly done medical procedures. We report a unique case of a 23-year-old young male who presented with features suggestive of inflammatory arthritis. The symptoms, which initially started on the right side, also involved the other side after a few weeks. Although the patient’s symptoms and signs were simulating inflammatory arthritis, he had atypical features like poor response to anti-inflammatory medicines and normal laboratory parameters. His musculoskeletal ultrasonography was also not suggestive of arthritis. His history was reviewed and on direct questioning he revealed a history of venipuncture for blood sample withdrawal, done from right antecubital region for routine health check on the day prior to the onset of symptoms. Complex regional pain syndrome was suspected and triple-phase radioisotope bone scan was done which was highly suggestive of this diagnosis. The patient was managed with multidimensional approach and responded very well to the treatment. Complex regional pain syndrome is usually not thought of in the initial differential diagnosis of inflammatory arthritis. In this report we highlight the need to elicit the often overlooked history of trivial trauma like venipuncture, especially in atypical cases of arthritis. Also the role of newer diagnostic modalities in such cases is emphasized.

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