scholarly journals De Novo Partial 13q22-q34 Trisomy with Typical Neurological and Immunological Findings: A Case Report with New Genetic Insights

2020 ◽  
Vol 11 (1) ◽  
pp. 21
Author(s):  
Claudia Brogna ◽  
Valentina Milano ◽  
Barbara Brogna ◽  
Lara Cristiano ◽  
Giuseppe Rovere ◽  
...  
Keyword(s):  
Case Report ◽  
De Novo ◽  
Partial Trisomy ◽  
Cerebral Vasculitis ◽  
Radiological Findings ◽  
Cerebral Lesions ◽  
Brain Malformations ◽  
Vermian Hypoplasia ◽  
Callosal Dysgenesis ◽  
First Time

The partial trisomy 13q encompasses an extensive variability of phenotypic and radiological findings including leukoencephalopathy and brain malformations such as holoprosencephaly, callosal dysgenesis, hippocampal hypoplasia, olfactory hypoplasia, and vermian hypoplasia. We report for the first time a case of a 23-year-old patient affected by de novo partial 13q22.1q34 trisomy (41.7 Mb, 72,365,975-114,077,122x3) presenting with hemiparesis related to both ischemic and haemorrhagic cerebral lesions compatible with cerebral vasculitis due to a possible combination of genetic and immunological interaction.

Prenatal diagnosis of a de novo trisomy 6q22.2→6qter and monosomy lpter→1p36.3. Case report with a 2-year follow-up and a brief review of other prenatal cases of partial trisomy 6q

2008 ◽  
Vol 51 (2) ◽  
pp. 115-117 ◽  
Author(s):  
Anita S. Kulharya ◽  
Mary E. Carlin ◽  
William A. Stettler ◽  
Martine Huslig ◽  
Mary K. Kukolich ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
De Novo ◽  
Partial Trisomy

Case report of newborn with de novo partial trisomy 2q31.2–37.3 and monosomy 9p24.3

2018 ◽  
Vol 97 (1) ◽  
pp. 311-317
Author(s):  
Maurizia Colangelo ◽  
Melissa Alfonsi ◽  
Chiara Palka ◽  
Eleonora Di Zio ◽  
Silvana Di Renzo ◽  
...  
Keyword(s):  
Case Report ◽  
De Novo ◽  
Partial Trisomy

scholarly journals Prenatal diagnosis of a de novo partial trisomy 6q and partial monosomy 18p associated with cephalocele: A case report

2020 ◽  
Vol 23 (1) ◽  
pp. 99-102
Author(s):  
A Karaman ◽  
B Karaman ◽  
A Çetinkaya ◽  
S Karaman ◽  
O Demirci
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
De Novo ◽  
Ultrasound Examination ◽  
Partial Trisomy ◽  
Unbalanced Translocation ◽  
Second Trimester ◽  
Partial Monosomy ◽  
Genetic Studies ◽  
Dysmorphic Features

AbstractA 28-year-old woman underwent amniocentesis at 18 weeks’ gestation upon detection of increased fetal nuchal fold and parietal cephalocele on the second trimester ultrasound examination. Prenatal microarray showed a de novo unbalanced translocation resulting in a gain in 6q and loss in 18p. A female infant was delivered at 38 weeks’ gestation. At birth, cephalocele and webbed neck were noted as major dysmorphic features. The case presented here shows how a combination of different genetic studies is used to accurately elucidate a chromosomal anomaly in a prenatal setting.

Managing the Transition to Edentulousness Using Partial Transitional Dentures for First Time Prosthodontic Patients: Addressing Unrealistic Expectations – A Case Report

2017 ◽  
Vol 1 (1) ◽  
Keyword(s):  
Case Report ◽  
Treatment Outcomes ◽  
Treatment Planning ◽  
Clinical Relevance ◽  
Treatment Plan ◽  
Sequential Treatment ◽  
Aesthetic Result ◽  
Abutment Teeth ◽  
First Time ◽  
Unrealistic Expectations

Aim: The aim of this report is to describe the management of a prosthodontic patient expressing unrealistic expectations with respect to the transition to edentulousness. Objectives: To outline (1) the diagnosis and explicit expectations of the patient on presentation (2) considerations made during treatment planning to address the wishes of the first time prosthodontic patient (3) a sequential treatment plan utilizing transitional partial removable dentures to manage the change to edentulousness (4) functional and aesthetic result achieved. Results: Delivery of immediate removable partial dentures retaining key abutment teeth in upper and lower arches was a viable prosthodontic solution in the transition to edentulousness of a patient expecting unrealistic treatment outcomes. Conclusions: Addressing impractical expectations and devising a treatment plan amenable to both clinician and patient is difficult. Strategies to manage these wishes in prosthodontic dentistry can include transitional partial dentures. Clinical relevance: Practitioners who encounter similar situations may consider this report valuable.

scholarly journals Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Begona Sanchez-Lechuga ◽  
Muhammad Saqlain ◽  
Nicholas Ng ◽  
Kevin Colclough ◽  
Conor Woods ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Case Report ◽  
Congenital Heart ◽  
De Novo ◽  
Adult Onset ◽  
Onset Diabetes ◽  
Adult Onset Diabetes ◽  
Pancreatic Agenesis

scholarly journals R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report

2021 ◽  
pp. 123-130
Author(s):  
Anker Stubberud ◽  
Emer O’Connor ◽  
Erling Tronvik ◽  
Henry Houlden ◽  
Manjit Matharu
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Genetic Testing ◽  
Head Trauma ◽  
Cerebral Oedema ◽  
De Novo ◽  
Minor Head Trauma ◽  
Hemiplegic Migraine ◽  
Wide Range ◽  
History Of

Mutations in the <i>CACNA1A</i> gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head trauma and culminate in encephalopathy and cerebral oedema. A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood. The attacks were usually triggered by minor head trauma, and on several occasions complicated with encephalopathy and cerebral oedema. Genetic testing of the proband and unaffected parents revealed a de novo heterozygous nucleotide missense mutation in exon 25 of the <i>CACNA1A</i> gene (c.4055G&#x3e;A, p.R1352Q). The R1352Q <i>CACNA1A</i> variant shares the phenotype with other described <i>CACNA1A</i> mutations and highlights the interesting association of trauma as a precipitant for hemiplegic migraine. Subjects with early-onset sporadic hemiplegic migraine triggered by minor head injury or associated with seizures, ataxia or episodes of encephalopathy should be screened for mutations. These patients should also be advised to avoid activities that may result in head trauma, and anticonvulsants should be considered as prophylactic migraine therapy.

scholarly journals The Forensic Entomology Case Report—A Global Perspective

Insects ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 283
Author(s):  
Zanthé Kotzé ◽  
Sylvain Aimar ◽  
Jens Amendt ◽  
Gail S. Anderson ◽  
Luc Bourguignon ◽  
...  
Keyword(s):  
Case Report ◽  
Forensic Entomology ◽  
Professional Associations ◽  
Global Perspective ◽  
Legal Requirements ◽  
Standard Format ◽  
Complete Report ◽  
Colonization Time ◽  
First Time

Forensic practitioners analyzing entomological evidence are faced with numerous challenges when presenting their findings to law practitioners, particularly in terms of terminology used to describe insect age, what this means for colonization time of remains, and the limitations to estimates made. Due to varying legal requirements in different countries, there is no standard format for the entomological case report prepared, nor any guidelines as to the sections that are required, optional or unnecessary in a case report. The authors herein propose sections that should be considered when drafting an entomological case report. The criteria under which entomological evidence is analyzed are discussed, as well as the limitations for each criterion. The concept of a global, standardized entomological case report is impossible to achieve due to national legislative differences, but the authors here propose a basic template which can be adapted and changed according to the needs of the practitioner. Furthermore, while the discussion is fairly detailed, capturing all differences between nations could not be accomplished, and those initiating casework for the first time are encouraged to engage other practicing forensic entomologists or professional associations within their own nation or region, to ensure a complete report is generated that meets lab or national requirements, prior to generating a finalized report.

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