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

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.

Primary Dwarfism, Microcephaly, and Chorioretinopathy due to a PLK4 Mutation in Two Siblings

2020 ◽  
Vol 93 (9-10) ◽  
pp. 567-572
Author(s):  
Álvaro Martín-Rivada ◽  
Jesús Pozo-Román ◽  
María Güemes ◽  
Nelmar Valentina Ortiz-Cabrera ◽  
Luis A. Pérez-Jurado ◽  
...  
Keyword(s):  
Short Stature ◽  
Autosomal Recessive ◽  
Genetic Basis ◽  
Frameshift Mutation ◽  
Psychomotor Development ◽  
Facial Features ◽  
Loss Of Function ◽  
Case Presentation ◽  
Severe Intellectual Disability ◽  
Severe Short Stature

<b><i>Introduction:</i></b> Primary autosomal recessive microcephalies (MCPHs) are characterized by primary dwarfism with MCPH and may present delayed psychomotor development and visual impairment. Biallelic loss of function variants in the <i>PLK4</i> gene<i>,</i> which encodes the polo-like kinase 4 protein involved in centriole biogenesis, has been recently identified in several patients with MCPH and various ethnic backgrounds. <b><i>Case Presentation:</i></b> Here, we describe 2 siblings of different sex from Equatorial Guinea harboring a homozygous frameshift mutation in <i>PLK4</i> (c.1299_1303del, p.Phe433Leufs*6). A Seckel syndrome spectrum phenotype was present in both siblings, with short stature, severe MCPH, reduced brain volume, and distinctive facial features. They also presented severe intellectual disability, lissencephaly/pachygyria, subependymal heterotopia, and ophthalmological impairment. One of them suffered from deafness, and scoliosis was observed in the other. <b><i>Discussion/Conclusion:</i></b> Biallelic variants in <i>PLK4</i> lead to a syndrome where severe short stature, MCPH, and cognitive impairment are constant features. However, ocular, skeletal, and other neurological manifestations can vary upon the same genetic basis.

Growth and development in girls with Turner's syndrome during early therapy with low doses of estradiol

1986 ◽  
Vol 113 (4_Suppl) ◽  
pp. S157-S163 ◽  
Author(s):  
K.W. KASTRUP ◽  
_ _
Keyword(s):  
Growth Velocity ◽  
Final Height ◽  
Bone Age ◽  
Growth Spurt ◽  
First Year ◽  
Turner's Syndrome ◽  
Turner’S Syndrome ◽  
Early Therapy ◽  
Group I ◽  
Group Ii

Abstract Early therapy with a low dose of estrogen (estradiol-17β) was given to 33 girls with Turner's syndrome (T.s.) for a period of 4 years. The dose (0.25-2 mg/day) was adjusted every 3 months to maintain plasma estradiol in the normal concentration range for bone age. Growth velocity was compared with that of untreated girls with T.s. All girls were above age 10 years. Bone age was below 10 years in 11 girls (group I) and above 10 years in 22 girls (group II). Growth velocity in the first year of treatment in group I 7.5 ± 1.3 cm (SD) with mean SD score (SDS) of +4.3 and in group II 4.9 ± 1.3 with mean SDS of +3.5. Growth velocity decreased in the following years to 1.6 ± 1.0 cm, SDS -1.44 in group I and 0.9 ± 0.6cm, SDS -2.34 in group II during the fourth year. Withdrawal bleeding occurred in 16 girls of group II after the mean of 23 (range 15-33) months and in 3 girls of group I after 15 to 51 months of treatment. The treatment did not cause an inappropriate acceleration of pubertal development. Breast development appeared in most girls by 3 months of treatment. Pubic hair appeared by 12 months of treatment in group I; it was present in most girls in group II at start of treatment. Final height is known for 12 girls of group II; it was 144.2 ± 4.5 cm. The final height as predicted at the start of therapy was 142.2 ± 5.3 cm. Bone age advanced in the first year of treatment by 2 years. Early treatment with small doses of estrogens induces a growth spurt and normalizes the events of puberty. This will presumably decrease the psychological risks associated with abnormally delayed development.

CARDIOLOGICAL PROBLEMS IN THE LONG-TERM PERIOD IN CHILDREN AFTER AORTIC COARCTATION SURGERY TREATMENT IN THE FIRST YEAR OF LIFE

2018 ◽  
Vol 97 (3) ◽  
pp. 24-28
Author(s):  
M.R. Tumanyan ◽  
◽  
A.A. Svobodov ◽  
E.G. Levchenko ◽  
A.G. Anderson ◽  
...  
Keyword(s):  
Aortic Coarctation ◽  
First Year ◽  
First Year Of Life

Muenke syndrome: long-term outcome of a syndrome-specific treatment protocol

2019 ◽  
Vol 24 (4) ◽  
pp. 415-422 ◽  
Author(s):  
Bianca K. den Ottelander ◽  
Robbin de Goederen ◽  
Marie-Lise C. van Veelen ◽  
Stephanie D. C. van de Beeten ◽  
Maarten H. Lequin ◽  
...  
Keyword(s):  
Treatment Protocol ◽  
First Year ◽  
Ventricular Size ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Skull Growth ◽  
Muenke Syndrome ◽  
First Year Of Life

OBJECTIVEThe authors evaluated the long-term outcome of their treatment protocol for Muenke syndrome, which includes a single craniofacial procedure.METHODSThis was a prospective observational cohort study of Muenke syndrome patients who underwent surgery for craniosynostosis within the first year of life. Symptoms and determinants of intracranial hypertension were evaluated by longitudinal monitoring of the presence of papilledema (fundoscopy), obstructive sleep apnea (OSA; with polysomnography), cerebellar tonsillar herniation (MRI studies), ventricular size (MRI and CT studies), and skull growth (occipital frontal head circumference [OFC]). Other evaluated factors included hearing, speech, and ophthalmological outcomes.RESULTSThe study included 38 patients; 36 patients underwent fronto-supraorbital advancement. The median age at last follow-up was 13.2 years (range 1.3–24.4 years). Three patients had papilledema, which was related to ophthalmological disorders in 2 patients. Three patients had mild OSA. Three patients had a Chiari I malformation, and tonsillar descent < 5 mm was present in 6 patients. Tonsillar position was unrelated to papilledema, ventricular size, or restricted skull growth. Ten patients had ventriculomegaly, and the OFC growth curve deflected in 3 patients. Twenty-two patients had hearing loss. Refraction anomalies were diagnosed in 14/15 patients measured at ≥ 8 years of age.CONCLUSIONSPatients with Muenke syndrome treated with a single fronto-supraorbital advancement in their first year of life rarely develop signs of intracranial hypertension, in accordance with the very low prevalence of its causative factors (OSA, hydrocephalus, and restricted skull growth). This illustrates that there is no need for a routine second craniofacial procedure. Patient follow-up should focus on visual assessment and speech and hearing outcomes.

Engineering for good: A case of community driven engineering innovation

2018 ◽  
Vol 6 (1) ◽  
Author(s):  
Chinweike Eseonu ◽  
Martin A Cortes
Keyword(s):  
Engineering Students ◽  
Technology Innovation ◽  
Local Communities ◽  
First Year ◽  
Engineering Curriculum ◽  
Engineering Design Process ◽  
The World ◽  
The University ◽  
Social Consideration

There is a culture of disengagement from social consideration in engineering disciplines. This means that first year engineering students, who arrive planning to change the world through engineering, lose this passion as they progress through the engineering curriculum. The community driven technology innovation and investment program described in this paper is an attempt to reverse this trend by fusing community engagement with the normal engineering design process. This approach differs from existing project or trip based approaches – outreach – because the focus is on local communities with which the university team forms a long-term partnership through weekly in-person meetings and community driven problem statements – engagement.

The ontogeny of long-term memory over the first year-and-a-half of life

1998 ◽  
Vol 32 (2) ◽  
pp. 69-89 ◽  
Author(s):  
Kristin Hartshorn ◽  
Carolyn Rovee-Collier ◽  
Peter Gerhardstein ◽  
Ramesh S. Bhatt ◽  
Teresa L. Wondoloski ◽  
...  
Keyword(s):  
Long Term Memory ◽  
First Year ◽  
Term Memory

Long-Term Follow-Up of Early Cochlear Implant Device Activation

2021 ◽  
pp. 1-11
Author(s):  
Stefanie Bruschke ◽  
Uwe Baumann ◽  
Timo Stöver
Keyword(s):  
Speech Recognition ◽  
Side Effects ◽  
Cochlear Implant ◽  
Surgical Techniques ◽  
Control Group ◽  
First Year ◽  
Safe Procedure ◽  
Sound Processor

Background: The cochlear implant (CI) is a standard procedure for the treatment of patients with severe to profound hearing loss. In the past, a standard healing period of 3–6 weeks occurred after CI surgery before the sound processor was initially activated. Advancements of surgical techniques and instruments allow an earlier initial activation of the processor within 14 days after surgery. Objective: Evaluation of the early CI device activation after CI surgery within 14 days, comparison to the first activation after 4–6 weeks, and assessment of the feasibility and safety of the early fitting over a 12 month observation period were the objectives of this study. Method: In a prospective study, 127 patients scheduled for CI surgery were divided into early fitting group (EF, n = 67) and control group (CG, n = 60). Individual questionnaires were used to evaluate medical and technical outcomes of the EF. Medical side effects, speech recognition, and follow-up effort were compared with the CG within the first year after CI surgery. Results: The early fitting was feasible in 97% of the EF patients. In the EF, the processor was activated 25 days earlier than in the CG. No major complications were observed in either group. At the follow-up appointments, side effects such as pain and balance problems occurred with comparable frequency in both groups. At initial fitting, the EF showed a significantly higher incidence of medical minor complications (p < 0.05). When developing speech recognition within the first year of CI use, no difference was observed. Furthermore, the follow-up effort within the first year after CI surgery was comparable in both groups. Conclusions: Early fitting of the sound processor is a feasible and safe procedure with comparable follow-up effort. Although more early minor complications were observed in the EF, there were no long-term wound healing problems caused by the early fitting. Regular inspection of the magnet strength is recommended as part of the CI follow-up since postoperative wound swelling must be expected. The early fitting procedure enabled a clear reduction in the waiting time between CI surgery and initial sound processor activation.

scholarly journals Depression following traumatic brain injury: a comprehensive overview

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Marc Fakhoury ◽  
Zaynab Shakkour ◽  
Firas Kobeissy ◽  
Nada Lawand
Keyword(s):  
Traumatic Brain Injury ◽  
Brain Injury ◽  
Health Concern ◽  
First Year ◽  
Comprehensive Overview ◽  
Symptoms Of Depression ◽  
Current State ◽  
Post Traumatic ◽  
Brain Changes

Abstract Traumatic brain injury (TBI) represents a major health concern affecting the neuropsychological health; TBI is accompanied by drastic long-term adverse complications that can influence many aspects of the life of affected individuals. A substantial number of studies have shown that mood disorders, particularly depression, are the most frequent complications encountered in individuals with TBI. Post-traumatic depression (P-TD) is present in approximately 30% of individuals with TBI, with the majority of individuals experiencing symptoms of depression during the first year following head injury. To date, the mechanisms of P-TD are far from being fully understood, and effective treatments that completely halt this condition are still lacking. The aim of this review is to outline the current state of knowledge on the prevalence and risk factors of P-TD, to discuss the accompanying brain changes at the anatomical, molecular and functional levels, and to discuss current approaches used for the treatment of P-TD.

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