scholarly journals A child with Myhre syndrome presenting with moyamoya disease: a case report and literature review

2019 ◽  
Author(s):  
Jing Zheng ◽  
Aiping Wang ◽  
Peng Huang ◽  
Jie Xiong ◽  
Lingjuan Liu ◽  
...  
Keyword(s):  
Short Stature ◽  
Moyamoya Disease ◽  
Behavioral Problems ◽  
Connective Tissue Disorder ◽  
Facial Dysmorphism ◽  
Intellectual Deficiency ◽  
Case Presentation ◽  
The Individual ◽  
Myhre Syndrome ◽  
Joint Limitation

Abstract Background: Myhre syndrome (MS) is a very rare connective tissue disorder characterized by facial dysmorphism, thickened skin, muscular pseudohypertrophy and joint limitation. Developmental delay is common. But there are no reports of MS combined with moyamoya disease (MMD). Here, we present the first Chinese case of MS complicated with MMD. Case presentation: A 7-old-year girl presented with developmental disorder, short stature, brachydactyly, short stature, and intellectual deficiency with behavioral problems. We sequenced SMAD4 using exome sequencing and identified a denovo mutation (p.Ile500Thr) in the patient. In addition, The patient also had recurrent hemiplegia and seizures was diagnosed with definitive MMD by digital subtraction angiography (DSA) according to the diagnostic criteria. Conclusions: MMD has never been described in the individual with the clinical presentation of MS. we present an unusual association of MS with a typical moyamoya syndrome in a young girl who developed recurrent hemiplegia and seizure in an effort to explore whether MS may contribute to the MMD.

Cornelia de Lange Syndrome A Case Report

2020 ◽  
Vol 44 (1) ◽  
pp. 52-54
Author(s):  
Muhammad Rezaul Karim ◽  
Suraiya Begum ◽  
Kohinoor Jahan Shamaly ◽  
Ismot Ara Zannat
Keyword(s):  
Short Stature ◽  
Behavioral Problems ◽  
Dna Analysis ◽  
Cornelia De Lange Syndrome ◽  
Heterozygous Mutation ◽  
Facial Dysmorphism ◽  
X Rays ◽  
Multisystem Disorder ◽  
Psychomotor Delay ◽  
Cornelia De Lange

Cornelia de Lange syndrome (CdLS) is a rare syndrome of multisystem disorder. Almost every system is involved in this disorder having growth retardation, facial dysmorphism, short stature, psychomotor delay and behavioral problems. Diagnosis is made on the basis of clinical observations, physical examination, laboratory tests and X-rays; chromosome analysis is usually conducted before a diagnosis is made. DNA testing is helpful for confirmation of the clinical diagnosis. A 10 year old boy presented with short stature, facial dysmorphism, microcephaly, mental retardation and micromelia. DNA analysis revealed heterozygous mutation in NIBPL gene. Patient was counseled about the diagnosis and treatment was given. We reported the case due to rarity of the disease. Bangladesh J Child Health 2020; VOL 44 (1) :52-54

Penggunaan Social Stories untuk Menurunkan Perilaku Nonadaptif Saat Berada dalam Kendaraan Bagi Autisme Dewasa

2020 ◽  
Vol 1 (2) ◽  
pp. 103
Author(s):  
Markus Nanang Irawan ◽  
Sri Widyawati
Keyword(s):  
Social Interaction ◽  
Behavior Problems ◽  
Adaptive Behavior ◽  
Behavioral Problems ◽  
Research Method ◽  
Social Stories ◽  
Steering Wheel ◽  
Graph Analysis ◽  
Adult Autism ◽  
The Individual

<pre><span>Individuals autism often have non-adaptive behavioral problems because of their barriers in communication and social interaction. The problem of non-adaptive behavior is often a nuisance to others because its appearance is not appropriate and not in accordance with the environment, age, and expectations of responsibility. One case of non-adaptive behavior that arises is the behavior while in a vehicle where the individual shows the behavior of singing loudly, knocking windows, pinching the driver, even holding the steering wheel. Based on these problems, this study aims to reduce non-adaptive behavior while in a vehicle. Participant is an adult autism. The research method is experiment by giving Social Stories to participants before riding the vehicle then recording to the possibility appearance of non adaptive behavior. The results of graph analysis showed a decrease in non adaptive behavior of adult autism adults while in a vehicle. This study became one of the important studies because it tries to understand the dynamics of behavior problems of individual autisme in adulthood.<strong></strong></span></pre><pre><span> </span></pre>

scholarly journals Screening for Early Signs of Paternal Perinatal Affective Disorder in Expectant Fathers: A Cluster Analysis Approach

2020 ◽  
Vol 11 (1) ◽  
pp. 10
Author(s):  
Sonia Mangialavori ◽  
Michele Giannotti ◽  
Marco Cacioppo ◽  
Federico Spelzini ◽  
Franco Baldoni
Keyword(s):  
Perceived Stress ◽  
Behavioral Problems ◽  
Marital Adjustment ◽  
Risky Behaviors ◽  
Perinatal Period ◽  
Dyadic Adjustment ◽  
Male Population ◽  
Cluster Membership ◽  
Expectant Fathers ◽  
The Individual

Previous studies documented gender-related differences in the expression of Perinatal Affective Disorders. However, little attention has been paid to screening the male population during the perinatal period. This study was based on three aims: (1) to investigate the mental health of expectant fathers based on their levels of depression, anxiety, addiction, anger attacks/hostility, and somatization, identifying psychological profiles; (2) to analyze the association between these profiles and the individual variable of perceived stress; (3) and to examine the association between these profiles and the couple’s variable of marital adjustment. A total of 350 Italian expectant fathers in the last trimester of pregnancy were asked to fill in questionnaires concerning perceived stress, dyadic adjustment, psychiatric symptomatology, and depression. Three different clusters were found: “psychologically healthy men” (68%) with low levels of symptoms on all the scales; “men at risk of externalized behavioral problems” (17.1%), characterized by one or more addictive or risky behaviors and moderate levels of scales scores; and “men experiencing psychological distress” (14.9%), with the highest scores on all the scales. A significant association emerged among the perceived stress, marital adjustment, and cluster membership. These results highlight the importance of screening fathers in perinatal health services, which are still predominantly mother-centered, and underscore the necessity to create tailored and personalized interventions.

scholarly journals Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Samina Yasin ◽  
Outi Makitie ◽  
Sadaf Naz
Keyword(s):  
Short Stature ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Loss Of Function ◽  
Case Presentation ◽  
Pathogenic Variants ◽  
Skeletal Malformations ◽  
Tarsal Bones ◽  
The Family ◽  
Heterozygous Carriers

Abstract Background Loss of function or gain of function variants of Filamin B (FLNB) cause recessive or dominant skeletal disorders respectively. Spondylocarpotarsal synostosis syndrome (SCT) is a rare autosomal recessive disorder characterized by short stature, fused vertebrae and fusion of carpal and tarsal bones. We present a novel FLNB homozygous pathogenic variant and present a carrier of the variant with short height. Case presentation We describe a family with five patients affected with skeletal malformations, short stature and vertebral deformities. Exome sequencing revealed a novel homozygous frameshift variant c.2911dupG p.(Ala971GlyfsTer122) in FLNB, segregating with the phenotype in the family. The variant was absent in public databases and 100 ethnically matched control chromosomes. One of the heterozygous carriers of the variant had short stature. Conclusion Our report expands the genetic spectrum of FLNB pathogenic variants. It also indicates a need to assess the heights of other carriers of FLNB recessive variants to explore a possible role in idiopathic short stature.

scholarly journals Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

2019 ◽  
Vol 10 (1) ◽  
Author(s):  
Hui Guo ◽  
◽  
Elisa Bettella ◽  
Paul C. Marcogliese ◽  
Rongjuan Zhao ◽  
...  
Keyword(s):  
Psychiatric Disorders ◽  
Glial Cells ◽  
Behavioral Problems ◽  
Motor Development ◽  
Statistical Significance ◽  
Behavioral Outcomes ◽  
Protein Product ◽  
Facial Dysmorphism ◽  
Variable Degree ◽  
Restricted Pattern

Abstract Postsynaptic density (PSD) proteins have been implicated in the pathophysiology of neurodevelopmental and psychiatric disorders. Here, we present detailed clinical and genetic data for 20 patients with likely gene-disrupting mutations in TANC2—whose protein product interacts with multiple PSD proteins. Pediatric patients with disruptive mutations present with autism, intellectual disability, and delayed language and motor development. In addition to a variable degree of epilepsy and facial dysmorphism, we observe a pattern of more complex psychiatric dysfunction or behavioral problems in adult probands or carrier parents. Although this observation requires replication to establish statistical significance, it also suggests that mutations in this gene are associated with a variety of neuropsychiatric disorders consistent with its postsynaptic function. We find that TANC2 is expressed broadly in the human developing brain, especially in excitatory neurons and glial cells, but shows a more restricted pattern in Drosophila glial cells where its disruption affects behavioral outcomes.

Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2

2017 ◽  
Vol 30 (1) ◽  
Author(s):  
Gabriela A. Vasques ◽  
Alfonso Hisado-Oliva ◽  
Mariana F.A. Funari ◽  
Antonio M. Lerario ◽  
Elisangela P.S. Quedas ◽  
...  
Keyword(s):  
Short Stature ◽  
Growth Velocity ◽  
Fat Distribution ◽  
Heterozygous Mutation ◽  
First Year ◽  
Loss Of Function ◽  
Nasal Bridge ◽  
Case Presentation ◽  
Hormonal Evaluation

AbstractBackground:Heterozygous loss-of-function mutations in the natriuretic peptide receptor B gene (Case presentation:The proband was a healthy boy who presented at the age of 5.1 years with familial short stature (height SDS of −3.1). He had a prominent forehead, a depressed nasal bridge, centripetal fat distribution and a high-pitched voice resembling that of children with GH deficiency. His hormonal evaluation showed low insulin-like growth factor-1 (IGF-1) but a normal GH peak at a stimulation test. During the first year of rhGH treatment, his growth velocity increased from 3.4 to 10.4 cm/year (height SDS change of +1.1). At the last visit, he was 8.8 years old and still on treatment, his growth velocity was 6.4 cm/year and height SDS was −1.8.Results:We identified through exome sequencing a novel heterozygous loss-of-functionConclusions:This case reveals a novel heterozygous loss-of-function

Clinical neuropsychological pathology profile of Moyamoya disease

2021 ◽  
Vol LII (3) ◽  
pp. 82-87
Author(s):  
Maxim G. Baryshkin ◽  
Alina G. Ahmetshina ◽  
Ksenia V. Pyrkova
Keyword(s):  
Medical History ◽  
Moyamoya Disease ◽  
Brain Ischemia ◽  
Neuropsychological Evaluation ◽  
Acute Brain Ischemia ◽  
The Individual ◽  
Cortical Functions

The goal of this study is to discover and describe the clinical qualities of higher cortical functions in a young Moyamoya patient with acute brain ischemia. We assessed the recovery of higher cortical functions for the period from March 2019 to January 2020. This paper presents the individual patients medical history and the neuropsychological evaluation conducted during the patients rehabilitation in January 2020.

scholarly journals Generalized Acquired Cutis Laxa Associated with Monoclonal Gammopathy of Dermatological Significance

2020 ◽  
Vol 2020 ◽  
pp. 1-10
Author(s):  
Sophia Z. Shalhout ◽  
Myrna R. Nahas ◽  
Reed E. Drews ◽  
David M. Miller
Keyword(s):  
Plasma Cell ◽  
Lupus Erythematosus ◽  
Monoclonal Gammopathy ◽  
Connective Tissue Disorder ◽  
Cutis Laxa ◽  
High Dose ◽  
Case Presentation ◽  
Plasma Cell Dyscrasias ◽  
One Year ◽  
Dose Prednisone

Background. Cutis laxa is a rare dermatosis that is inherited or acquired and clinically features loose, wrinkled, and redundant skin with decreased elasticity. This heterogeneous connective tissue disorder may be localized or generalized, with or without internal manifestations. Generalized cutis laxa often has a cephalocaudal progression and is attributed to inflammatory cutaneous eruptions, medications, and infections. Cutis laxa is also associated with several other conditions including rheumatoid arthritis, systemic lupus erythematosus, and plasma-cell dyscrasias. Case Presentation. We report an unusual case of a 35-year-old male with progression of generalized acquired cutis laxa and vasculitis that occurred over a period of one year. No cutaneous inflammatory eruption preceded or accompanied his decreased skin elasticity, and a biopsy of the skin showed elastolysis. His cutaneous manifestation led to systemic evaluation and an eventual diagnosis of smoldering multiple myeloma accompanied by aortitis and anemia. His myeloma and vasculitis were successfully treated with cyclophosphamide, bortezomib, and dexamethasone and high-dose prednisone, respectively, with no improvement to his cutis laxa. Conclusions. The presence of monoclonal gammopathy is strongly associated with several dermatological entities such as acquired cutis laxa. We propose a new term for the dermatological manifestations caused by paraproteinemia: monoclonal gammopathy of dermatological significance, or MGODS, and stress the evaluation of an underlying gammopathy in the setting of certain dermatologic conditions, including scleromyxedema and amyloidosis. We present a case of a newly acquired cutis laxa secondary to plasma-cell dyscrasias that exemplifies MGODS, alongside a brief literature review, and underscore the clinical relevance of monoclonal gammopathies of dermatological significance.

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