scholarly journals Sarcotubular Myopathy Due to Novel TRIM32 Mutation in Association with Multiple Sclerosis

2021 ◽  
Vol 11 (8) ◽  
pp. 1020
Author(s):  
Margarita Marchuk ◽  
Tetiana Dovbonos ◽  
Halyna Makukh ◽  
Orest Semeryak ◽  
Yevheniya Sharhorodska
Keyword(s):  
Lower Extremities ◽  
Proximal Part ◽  
Fatty Degeneration ◽  
Positive Symptom ◽  
Left Frontal Lobe ◽  
Variant Of Uncertain Significance ◽  
Homozygous Variant ◽  
Uncertain Significance ◽  
Oligoclonal Igg ◽  
The Right

Azerbaijani 28-year-old female showed weakness (MRC (Medical Research Council Scale for Muscle Strength) grade 4 in the proximal part of the upper and MRC grade 2–3 in the lower extremities), difficulty in stair lifting, positive symptom of Hoover’s rising, «waddling gait», decline deep reflexes symmetrical, lack of surface reflexes, positive Babinsky’s reflex on the right, urinary incontinence during sneezing, prolonged walking and exercise from puberty. Additional methods made it possible to identify minor violations of conduction of the left ventricle, electromyography signs of primary muscular disease with predominant involvement of the proximal muscles of the lower extremities, elevation of serum creatine kinase (746.81 U/l), active foci of demyelination in the left frontal lobe, intrathecal synthesis of oligoclonal IgG bands (type 2) in cerebrospinal fluid, atrophy and fatty degeneration of all muscles of the shins, homozygous Variant of Uncertain Significance (VUS) c.1855C > T (p.Pro619Ser) in TRIM32 gene and heterozygous VUS c.2300C > G (p.Thr767Arg) in KIF5A, c.2840G > A (p.Arg947Lys) in MYH2, c.1502G > C (p.Gly501Ala) in POMT1 genes. Comparison of the phenotypes of the mutations that have been identified with the clinical picture of the patient suggests that VUS c.1855C > T (p.Pro619Ser) in the TRIM32 gene can be pathological. Summarizing, it can be argued that the cause of the identified disorders is a homozygous variant c.1855C > T (p.Pro619Ser) in TRIM32 gene that causes LGMDR8 in a patient with MS.

scholarly journals Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up

2021 ◽  
Vol 7 (2) ◽  
pp. 22
Author(s):  
Jamie Matteson ◽  
Stanley Sciortino ◽  
Lisa Feuchtbaum ◽  
Tracey Bishop ◽  
Richard S. Olney ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Program Implementation ◽  
Screening Program ◽  
Birth Prevalence ◽  
Variant Of Uncertain Significance ◽  
Implementation Challenges ◽  
Screening Programs ◽  
Uncertain Significance ◽  
Long Term Follow Up

X-linked adrenoleukodystrophy (ALD) is a recent addition to the Recommended Uniform Screening Panel, prompting many states to begin screening newborns for the disorder. We provide California’s experience with ALD newborn screening, highlighting the clinical and epidemiological outcomes observed as well as program implementation challenges. In this retrospective cohort study, we examine ALD newborn screening results and clinical outcomes for 1,854,631 newborns whose specimens were received by the California Genetic Disease Screening Program from 16 February 2016 through 15 February 2020. In the first four years of ALD newborn screening in California, 355 newborns screened positive for ALD, including 147 (41%) with an ABCD1 variant of uncertain significance (VUS) and 95 males diagnosed with ALD. After modifying cutoffs, we observed an ALD birth prevalence of 1 in 14,397 males. Long-term follow-up identified 14 males with signs of adrenal involvement. This study adds to a growing body of literature reporting on outcomes of newborn screening for ALD and offering a glimpse of what other large newborn screening programs can expect when adding ALD to their screening panel.

scholarly journals First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pathogenic variant?

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Mario Tumminello ◽  
Antonella Gangemi ◽  
Federico Matina ◽  
Melania Guardino ◽  
Bianca Lea Giuffrè ◽  
...  
Keyword(s):  
Ectodermal Dysplasia ◽  
Genetic Disorder ◽  
Missense Variant ◽  
Pathogenic Variant ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Variant Of Uncertain Significance ◽  
Uncertain Significance ◽  
Clinical Potential ◽  
Genomic Variant ◽  
Eda Gene

Abstract Background Hypohidrotic Ectodermal Dysplasia (HED) is a genetic disorder which affects structures of ectodermal origin. X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of disease. XLHED is characterized by hypotrichosis, hypohydrosis and hypodontia. The cardinal features of classic HED become obvious during childhood. Identification of a hemizygous EDA pathogenic variant in an affected male confirms the diagnosis. Case presentation We report on a male newborn with the main clinical characteristics of the X-linked HED including hypotrichosis, hypodontia and hypohidrosis. Gene panel sequencing identified a new hemizygous missense variant of uncertain significance (VUS) c.1142G > C (p.Gly381Ala) in the EDA gene, located on the X chromosome and inherited from the healthy mother. Conclusion Despite the potential functional impact of VUS remains uncharacterized, our goal is to evaluate the clinical potential consequences of missense VUS on EDA gene. Even if the proband’s phenotype is characteristic for classic HED, further reports of patients with same clinical phenotype and the same genomic variant are needed to consider this novel VUS as responsible for the development of HED.

scholarly journals Focused Genetic Recombination of Bacteriophage T4 Initiated by Double-Strand Breaks

Genetics ◽  
2002 ◽  
Vol 162 (2) ◽  
pp. 543-556
Author(s):  
Victor Shcherbakov ◽  
Igor Granovsky ◽  
Lidiya Plugina ◽  
Tamara Shcherbakova ◽  
Svetlana Sizova ◽  
...  
Keyword(s):  
Genetic Recombination ◽  
Bacteriophage T4 ◽  
Proximal Part ◽  
Coupling Model ◽  
Strand Break ◽  
Double Strand Breaks ◽  
Strand Breaks ◽  
The Right ◽  
Frequency Distance

Abstract A model system for studying double-strand-break (DSB)-induced genetic recombination in vivo based on the ets1 segCΔ strain of bacteriophage T4 was developed. The ets1, a 66-bp DNA fragment of phage T2L containing the cleavage site for the T4 SegC site-specific endonuclease, was inserted into the proximal part of the T4 rIIB gene. Under segC+ conditions, the ets1 behaves as a recombination hotspot. Crosses of the ets1 against rII markers located to the left and to the right of ets1 gave similar results, thus demonstrating the equal and symmetrical initiation of recombination by either part of the broken chromosome. Frequency/distance relationships were studied in a series of two- and three-factor crosses with other rIIB and rIIA mutants (all segC+) separated from ets1 by 12-2100 bp. The observed relationships were readily interpretable in terms of the modified splice/patch coupling model. The advantages of this localized or focused recombination over that distributed along the chromosome, as a model for studying the recombination-replication pathway in T4 in vivo, are discussed.

Brodie’s Abscess of the Proximal Humerus Metaphysis: A Case Report

2021 ◽  
Vol 11 (9) ◽  
Author(s):  
Nilesh Vishwakarma ◽  
Shaival Chauhan ◽  
Shrey S Binyala ◽  
Sanjeev K Singh
Keyword(s):  
Case Report ◽  
Shoulder Joint ◽  
Proximal Part ◽  
Focal Lesion ◽  
Posterior View ◽  
Brodie’S Abscess ◽  
Magnetic Resonance Imaging Mri ◽  
The Right ◽  
Pyogenic Osteomyelitis ◽  
Metaphyseal Region

Introduction:Primary subacute pyogenic osteomyelitis, or Brodie’s abscess was initially documented by Sir Benjamin Brodie in 1832. We present a case report with a 6-months follow-up period, demonstrating the successful diagnosis and surgical treatment of a focal lesion of the proximal metaphysis of the right humerus in a 21-years-old female. The pathology of hematologic osteomyelitis and its role in the development of a subacute abscess along with a review of literature and an in detail description of the pathogenesis of Brodie’s abscess is discussed and submitted. Case Report:A 21- years -old healthy female with a history of fall sustaining injury to the right shoulder one 1 year back followed by which she presented to the outpatient clinic with a swelling over her right shoulder. The patient was managed conservatively with analgesics and was relieved of pain over a course of one 1 week of medications, the patient now presents with pain and swelling in the right shoulder joint on and off since the episode of fall one 1 year back, which had increased over a period of past one 1 week. A week before the most recent presentation she started experiencing some discomfort and pain in her right shoulder. No recent trauma was reported. A mild swelling appeared over the proximal part of the humerus. There were no constitutional symptoms of fever or any illness reported. On examination, there was noted a painful restriction of ROM at the right shoulder joint with no rotator cuff injury. Laboratory investigations were suggestive of raised inflammatory markers. Radiograph of the right shoulder taken in the true antero-posterior view with the shoulder in the neutral rotation was suggestive of an oval lucency with surrounding sclerosis in the proximal metaphyseal region of the humerus. Magnetic resonance imaging MRI of the right shoulder joint showed features consistent with Brodie’s abscess in the proximal metaphyseal region of the humerus. Surgical debridement of the abscess w

scholarly journals Persistent sciatic artery: A case report

2008 ◽  
Vol 136 (11-12) ◽  
pp. 654-657
Author(s):  
Dragan Sagic ◽  
Zelimir Antonic ◽  
Stevo Duvnjak ◽  
Miodrag Peric ◽  
Branko Petrovic ◽  
...  
Keyword(s):  
Femoral Artery ◽  
Common Femoral Artery ◽  
Proximal Part ◽  
Persistent Sciatic Artery ◽  
Usual Manner ◽  
Therapeutic Decisions ◽  
Inferior Extremity ◽  
Internal Iliac ◽  
Embryologic Development ◽  
The Right

INTRODUCTION The sciatic artery represents the earliest embryological blood supply to the lower extremity. It regresses after the 3rd month of embryologic development. The proximal part of the sciatic artery eventually persists as the inferior gluteal artery. Rarely, however, it persists into adulthood when it is frequently associated with numerous possible complications (aneurysm formation, embolism, nerve compression, rupture, thrombosis). CASE OUTLINE In March 1996, a 48-year-old male was admitted for angiography of the blood vessels of the right inferior extremity, before an elective orthopaedic procedure. Arteriography of the right leg was done in a usual manner through the right common femoral artery in order to get an angiogram of the popliteal trifurcation and crural arteries. However, on the first field we noticed a hypoplastic superficial femoral artery, as well as a huge persistent sciatic artery (PSA) originating from the internal iliac artery running distally and overlapping the deep femoral artery. There were no aneurysm and stenotic changes of PSA. CONCLUSION If clinical condition is stable, follow-ups at 12 months intervals should be done by means of ultrasound. The therapeutic decisions also depend on complete or incomplete PSA.

scholarly journals Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis

2022 ◽  
Vol 8 (1) ◽  
pp. e654
Author(s):  
Melissa Nel ◽  
Amokelani C. Mahungu ◽  
Nomakhosazana Monnakgotla ◽  
Gerrit R. Botha ◽  
Nicola J. Mulder ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Population Group ◽  
Genetic Ancestry ◽  
Familial Case ◽  
Data Sets ◽  
Variant Of Uncertain Significance ◽  
Pathogenic Variants ◽  
Sporadic Als ◽  
Uncertain Significance ◽  
Lateral Sclerosis

Background and ObjectivesTo perform the first screen of 44 amyotrophic lateral sclerosis (ALS) genes in a cohort of African genetic ancestry individuals with ALS using whole-genome sequencing (WGS) data.MethodsOne hundred three consecutive cases with probable/definite ALS (using the revised El Escorial criteria), and self-categorized as African genetic ancestry, underwent WGS using various Illumina platforms. As population controls, 238 samples from various African WGS data sets were included. Our analysis was restricted to 44 ALS genes, which were curated for rare sequence variants and classified according to the American College of Medical Genetics guidelines as likely benign, uncertain significance, likely pathogenic, or pathogenic variants.ResultsThirteen percent of 103 ALS cases harbored pathogenic variants; 5 different SOD1 variants (N87S, G94D, I114T, L145S, and L145F) in 5 individuals (5%, 1 familial case), pathogenic C9orf72 repeat expansions in 7 individuals (7%, 1 familial case) and a likely pathogenic ANXA11 (G38R) variant in 1 individual. Thirty individuals (29%) harbored ≥1 variant of uncertain significance; 10 of these variants had limited pathogenic evidence, although this was insufficient to permit confident classification as pathogenic.DiscussionOur findings show that known ALS genes can be expected to identify a genetic cause of disease in >11% of sporadic ALS cases of African genetic ancestry. Similar to European cohorts, the 2 most frequent genes harboring pathogenic variants in this population group are C9orf72 and SOD1.

I.—On Didymograptus, Tetragraptus, and Phyllograptus

1895 ◽  
Vol 2 (11) ◽  
pp. 481-492
Author(s):  
Gerhard Holm
Keyword(s):  
Proximal Part ◽  
The Right ◽  
True Structure ◽  
Different Levels

As has been previously indicated (see p. 439), the conclusion might be drawn from Moberg's description and figures of this species, interpreted by the knowledge of the true structure of the Didymograptus polypary, that the structure of the proximal part could in no essential particulars be separated from that just described in D. minutus, Mut. Consequently the genus Isograptus, which was proposed by Moberg for the species in question, is not authorized—at least, as founded on any of the characters cited by Moberg. The differences between Isograptus and Didymograptus, to which latter genus the species is referred by Nicholson, ought to be, according to Moberg, that in Didymograptus “both stipes arise at somewhat different levels on the sicula,” and that “each branch is itself bilaterally symmetrical”; whilst, on the contrary, in Isograptus the stipes should “arise bilaterally symmetrical from the sicula,” and each branch is not itself bilaterally symmetrical. As we have seen above, in reality in Didymograptus the left stipe is not bilaterally symmetrical, and the symmetry in the right stipe is entirely the same as that which is described by Moberg in Isograptus, namely, obliquely near the base, because the stipes do not arise from the side of the sicula, but from the “connecting” canal.

PRINCESS ELIZABETH, SECOND DAUGHTER OF KING CHARLES I, AND RICKETS

PEDIATRICS ◽  
1979 ◽  
Vol 64 (2) ◽  
pp. 241-241
Author(s):  
T. E. C.
Keyword(s):  
Relative Proportion ◽  
Spinal Column ◽  
Lower Extremities ◽  
Long Bone ◽  
Upper Arm ◽  
Charles I ◽  
King Charles I ◽  
The Right ◽  
Shoulder Blade ◽  
Unequal Length

In 1856 the coffin of Princess Elizabeth (1635-1650) was discovered during the demolition of old St. Thomas's Church at Newport, Isle of Wight, England. Mr. Ernest P. Wilkins, MRCS, examined the remains of the Princess and noted:1 The bones of the upper arm were slightly curved outwards—more particularly the right humerous—while those of the forearm were somewhat twisted and considerably curved outwards. The spinal column, retaining the relative position of the vertebrae during life, presented an extremely curved condition constituting the double lateral or S curvature of pathologists, which must have caused considerable projection of the right shoulder-blade and its attendant deformity .... The condyles of the lower extremities were very large in relative proportion. The femur or thigh bone of the left side was curved forwards and inwards, that of the right side was more distorted than any other long bone. It was very much curved forwards and inwards. This bone was much flattened, its greatest diameter being from before, obliquely outwards and backwards; the concavity of the curve was somewhat filled in, and the bone thus strengthened by additional osseous deposit in accordance with the natural reparative tendency of Nature's laws. The bones of the leg, the tibia and fibula, were much curved outwards. The bones of the skeleton indicate the great deformity which existed during life—there was evidently considerable "growing out" of the right shoulder-blade and corresponding flattening of the left side of the back. The lower extremities were contorted and of unequal length, the knees were what is termed "knocked"; below the knees the legs were bowed, the heels thrown outwards and the toes inverted.

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