Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

Last update 01 Nov 2024

Basic Info

Synonyms

CHRISTIAN SYNDROME, CHRS, Christian Syndrome

+ [11]

Introduction

This syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked.

100 Clinical Results associated with Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

100 Translational Medicine associated with Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

0 Patents (Medical) associated with Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

Literatures (Medical) associated with Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

01 May 2024·Radiology Case Reports

Sporadic Class II Congenital humeroradial synostosis and Left Micromelia in a three-and-a-half-months female Ghanaian infant

Author: Edzie, Emmanuel Kobina Mesi ; Brakohiapa, Edmund Kwakye ; Segbefia, Michael ; Dzefi-Tettey, Klenam ; Onimole, Emmanuel ; Basogloyele, Clarence ; Opoku, Maxwell ; Nimo, Obed ; Sarkodie, Benjamin Dabo

Congenital humeroradial synostosis (CHRS) is a rare musculoskeletal condition that significantly affects the mobility of the elbow joint. They occur in various types and forms depending on the types and numbers of bones involved at the elbow. CHRS may present with elbow deformity and limitation of function. Appropriate timely diagnosis and counseling are required since CHRS is mostly managed conservatively according to literature and may prevent avoidable fractures of the radius from attempts by parents to straighten the flexed fixed elbow and finally offer adequate time for delayed surgical intervention which is usually ineffective and unhelpful.

01 Jan 2023·Russian Clinical Laboratory Diagnostics

ANALYSIS OF NEUTROPHIL FUNCTIONAL ACTIVITY IN PATIENTS WITH CHRONIC POLYPOSIS RHINOSINUSITIS AFTER TREATMENT WITH INTERFERON GAMMA

Article

Author: Baranova, N I ; Shkurova, N A ; Aschina, L A ; Molotilov, B A

Chronic polyposis rhinosinusitis (CPRS) is an inflammatory disease of the nose and paranasal sinuses, accompanied by the formation and recurrent growth of polyps. PDRS is an urgent medical problem, because it is difficult to treat and is accompanied by constant exacerbations. The important role of neutrophil granulocytes in the pathogenesis of CPRS has been proved, as they are the first line of defense in response to tissue damage and active participants in the pathological process. There is evidence of successful use of immunocorrectors in the treatment of patients with CPPS, but they are often prescribed without regard to possible pathogenetic mechanisms of the disease. One of the promising immunomodulators of local use is a preparation of human recombinant interferon gamma. It is known that interferon gamma is able to activate neutrophils due to the receptors to this cytokine, which are located on their surface. The aim of the study was to investigate the functional activity of neutrophils in patients with CPPS and the effect of human recombinant interferon gamma on these indicators. Thirty-five patients with CHRS were examined before and after therapy with intranasal interferon gamma. The control group included 30 healthy subjects. Functional activity of neutrophils was studied in whole blood by chemiluminescent method using double stimulation. Patients with CPRS before treatment revealed increased indexes of neutrophils stimulated activity, maximal intensity of cells luminescence, activation coefficient and decreased time of neutrophils output at maximal luminescence. After treatment with intranasal preparation of interferon gamma there was significant decrease of spontaneous and stimulated activity of neutrophils and maximum intensity of cell luminescence. As a result, after the treatment, in patients with CHRS the values of stimulated production of neutrophils and maximum intensity of cell luminescence were reduced to the level of the control group, and the spontaneous activity of neutrophils was even lower than in healthy subjects, while the neutrophils activation factor remained elevated as in patients before therapy. The results obtained testify to normalization of the main indexes of neutrophil functional activity in CHPS patients after treatment with human recombinant interferon gamma.

28 May 2022·The World Journal of Biological PsychiatryQ3 · MEDICINE

Inefficient integration during multiple facial processing in pre-morbid and early phases of psychosis

Q3 · MEDICINE

Article

Author: Guo, XiaoLi ; Tang, XiaoChen ; Xu, LiHua ; Li, ChunBo ; Hu, YeGang ; Chen, Tao ; Liu, HaiChun ; Hui, Li ; Liu, Zhi ; Cui, HuiRu ; Wei, YanYan ; Tang, YingYing ; Wang, JiJun ; Xiong, Xin ; Yang, YingYu ; Zhang, TianHong

OBJECTIVESWe used eye-tracking to evaluate multiple facial context processing and event-related potential (ERP) to evaluate multiple facial recognition in individuals at clinical high risk (CHR) for psychosis.METHODSIn total, 173 subjects (83 CHRs and 90 healthy controls [HCs]) were included and their emotion perception performances were accessed. A total of 40 CHRs and 40 well-matched HCs completed an eye-tracking task where they viewed pictures depicting a person in the foreground, presented as context-free, context-compatible, and context-incompatible. During the two-year follow-up, 26 CHRs developed psychosis, including 17 individuals who developed first-episode schizophrenia (FES). Eighteen well-matched HCs were made to complete the face number detection ERP task with image stimuli of one, two, or three faces.RESULTSCompared to the HC group, the CHR group showed reduced visual attention to contextual processing when viewing multiple faces. With the increasing complexity of contextual faces, the differences in eye-tracking characteristics also increased. In the ERP task, the N170 amplitude decreased with a higher face number in FES patients, while it increased with a higher face number in HCs.CONCLUSIONSIndividuals in the very early phase of psychosis showed facial processing deficits with supporting evidence of different scan paths during context processing and disruption of N170 during multiple facial recognition.

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Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

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