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European Journal of Medical Genetics Dec 2022Pathogenic variants in CENPJ have been first identified in consanguineous Pakistani families with Hereditary Primary Microcephaly type 6 (MCPH6). In addition to primary...
Pathogenic variants in CENPJ have been first identified in consanguineous Pakistani families with Hereditary Primary Microcephaly type 6 (MCPH6). In addition to primary microcephaly, the CENPJ-related phenotypic spectrum lately included also distinctive and peculiar 'bird-like' craniofacial dysmorphisms, intrauterine and/or postnatal growth retardation, and moderate to severe intellectual disability (ID). These features are also part of the clinical spectrum of Seckel syndrome (SCKL) a genetically heterogeneous neurodevelopmental condition caused by mutations in different genes involved in cell cycle progression. Among these, CENPJ is responsible for type 4 Seckel syndrome (SCKL4). The literature reports two individuals affected by SCKL4 suffering from seizures and other two individuals with other brain malformations in addition to microcephaly. However, neither epilepsy nor brain malformations are described in detail and genotype-phenotype information remains limited. We describe the first Caucasian affected with SCKL4 and harboring a novel, homozygous mutation in CENPJ. We detail the clinical and neuroradiological findings including structural focal epilepsy and a severe brain malformation (i.e., hydranencephaly) that was never associated with SCKL4 to date.
Topics: Humans; Microcephaly; Hydranencephaly; Dwarfism; Facies; Intellectual Disability; Mutation; Microtubule-Associated Proteins
PubMed: 36334884
DOI: 10.1016/j.ejmg.2022.104659 -
Surviving Sepsis Campaign: International Guidelines for Management of Sepsis and Septic Shock: 2016.Intensive Care Medicine Mar 2017To provide an update to "Surviving Sepsis Campaign Guidelines for Management of Sepsis and Septic Shock: 2012".
OBJECTIVE
To provide an update to "Surviving Sepsis Campaign Guidelines for Management of Sepsis and Septic Shock: 2012".
DESIGN
A consensus committee of 55 international experts representing 25 international organizations was convened. Nominal groups were assembled at key international meetings (for those committee members attending the conference). A formal conflict-of-interest (COI) policy was developed at the onset of the process and enforced throughout. A stand-alone meeting was held for all panel members in December 2015. Teleconferences and electronic-based discussion among subgroups and among the entire committee served as an integral part of the development.
METHODS
The panel consisted of five sections: hemodynamics, infection, adjunctive therapies, metabolic, and ventilation. Population, intervention, comparison, and outcomes (PICO) questions were reviewed and updated as needed, and evidence profiles were generated. Each subgroup generated a list of questions, searched for best available evidence, and then followed the principles of the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) system to assess the quality of evidence from high to very low, and to formulate recommendations as strong or weak, or best practice statement when applicable.
RESULTS
The Surviving Sepsis Guideline panel provided 93 statements on early management and resuscitation of patients with sepsis or septic shock. Overall, 32 were strong recommendations, 39 were weak recommendations, and 18 were best-practice statements. No recommendation was provided for four questions.
CONCLUSIONS
Substantial agreement exists among a large cohort of international experts regarding many strong recommendations for the best care of patients with sepsis. Although a significant number of aspects of care have relatively weak support, evidence-based recommendations regarding the acute management of sepsis and septic shock are the foundation of improved outcomes for these critically ill patients with high mortality.
Topics: Anti-Bacterial Agents; Blood Glucose; Calcitonin; Critical Illness; Erythrocyte Transfusion; Fluid Therapy; Humans; Nutrition Assessment; Patient Care Planning; Renal Replacement Therapy; Respiration, Artificial; Sepsis; Shock, Septic; Vasoconstrictor Agents
PubMed: 28101605
DOI: 10.1007/s00134-017-4683-6 -
Cardiology in the Young Mar 2022Seckel syndrome is a very rare autosomal recessive disorder also known as bird headed dwarfism". It is characterised by proportional short stature, low birth weight,... (Review)
Review
Seckel syndrome is a very rare autosomal recessive disorder also known as bird headed dwarfism". It is characterised by proportional short stature, low birth weight, dysmorphic facial appearance, and mental retardation. In addition to its dysmorphic features, skeletal, endocrine, gastrointestinal, haematologic, genitourinary, and nervous system has been involved. Cardiovascular features very rarely associate with Seckel syndrome. We report two patients with Seckel syndrome, one with dilated cardiomyopathy and the other with multiple ventricular septal defects. Dilated cardiomyopathy and isolated ventricular septal defect have not been previously reported in Seckel syndrome. Cardiovascular evaluation should be performed in all patients with Seckel syndrome. Early diagnosis of congenital and acquired heart diseases will reduce morbidity and mortality in these patients.
Topics: Abnormalities, Multiple; Cardiomyopathy, Dilated; Cardiovascular Abnormalities; Dwarfism; Facies; Humans; Microcephaly
PubMed: 34387179
DOI: 10.1017/S1047951121003097 -
Proceedings (Baylor University. Medical... Jan 2021Seckel syndrome is a rare autosomal recessive disorder characterized by facial dysmorphic features known as bird-headed dwarfism. Only about 100 cases have been...
Seckel syndrome is a rare autosomal recessive disorder characterized by facial dysmorphic features known as bird-headed dwarfism. Only about 100 cases have been reported. Cardiac anomalies have been described as a potential association with Seckel syndrome. We report a 21-year-old woman with Seckel syndrome and epilepsy who presented with status epilepticus. She was hypotensive and bradycardic. Her electrocardiogram showed complete heart block. She was placed on transcutaneous pacer with no response. A transvenous pacemaker was placed before inserting a suitable permanent pacemaker for her size. This is the third case of complete heart block associated with Seckel syndrome and raises concern about the potential association.
PubMed: 33953479
DOI: 10.1080/08998280.2020.1871265 -
Ryoikibetsu Shokogun Shirizu 1996
Review
Topics: Abnormalities, Multiple; Adult; Dwarfism; Humans; Male
PubMed: 9048085
DOI: No ID Found -
American Journal of Respiratory and... May 2017This document provides evidence-based clinical practice guidelines on the use of mechanical ventilation in adult patients with acute respiratory distress syndrome (ARDS).
An Official American Thoracic Society/European Society of Intensive Care Medicine/Society of Critical Care Medicine Clinical Practice Guideline: Mechanical Ventilation in Adult Patients with Acute Respiratory Distress Syndrome.
BACKGROUND
This document provides evidence-based clinical practice guidelines on the use of mechanical ventilation in adult patients with acute respiratory distress syndrome (ARDS).
METHODS
A multidisciplinary panel conducted systematic reviews and metaanalyses of the relevant research and applied Grading of Recommendations, Assessment, Development, and Evaluation methodology for clinical recommendations.
RESULTS
For all patients with ARDS, the recommendation is strong for mechanical ventilation using lower tidal volumes (4-8 ml/kg predicted body weight) and lower inspiratory pressures (plateau pressure < 30 cm HO) (moderate confidence in effect estimates). For patients with severe ARDS, the recommendation is strong for prone positioning for more than 12 h/d (moderate confidence in effect estimates). For patients with moderate or severe ARDS, the recommendation is strong against routine use of high-frequency oscillatory ventilation (high confidence in effect estimates) and conditional for higher positive end-expiratory pressure (moderate confidence in effect estimates) and recruitment maneuvers (low confidence in effect estimates). Additional evidence is necessary to make a definitive recommendation for or against the use of extracorporeal membrane oxygenation in patients with severe ARDS.
CONCLUSIONS
The panel formulated and provided the rationale for recommendations on selected ventilatory interventions for adult patients with ARDS. Clinicians managing patients with ARDS should personalize decisions for their patients, particularly regarding the conditional recommendations in this guideline.
Topics: Adult; Chest Wall Oscillation; Extracorporeal Membrane Oxygenation; Humans; Positive-Pressure Respiration; Prone Position; Respiration, Artificial; Respiratory Distress Syndrome
PubMed: 28459336
DOI: 10.1164/rccm.201703-0548ST -
Journal of Medicine 1993The authors describe a case similar to the complex syndrome described by Seckel (1960), "dwarf-headed dwarfism." This case differs from others previously reported... (Review)
Review
The authors describe a case similar to the complex syndrome described by Seckel (1960), "dwarf-headed dwarfism." This case differs from others previously reported because of slight hypophyseal hypoplasia with a slight reduction of human chorionic gonadotrophin (HCG) serum levels, and because of the parent's consanguinity (first cousins). A comparative critical examination was carried out on the 44 cases of Seckel's syndrome described in the literature. Only 19 of these cases appear to be comparable with Seckel's description, while the others are dubious, due to incomplete data. Some can be identified as ordinary cases of dwarfism with microcephaly or mental deficit. Until more precise and objective parameters are established, it would be advisable to refer to this particular form of dwarfism as "Virchow-Seckel type dwarf-headed dwarfism," in order to avoid using the more binding term "syndrome" and the misleading term "bird-headed."
Topics: Abnormalities, Multiple; Adult; Clubfoot; Consanguinity; Dwarfism; Female; Heart Defects, Congenital; Humans; Intellectual Disability; Microcephaly; Radiography; Scoliosis
PubMed: 8501405
DOI: No ID Found -
The Journal of Maternal-fetal &... Jun 2019The Seckel syndrome is an autosomal recessive inherited disorder that characterized severe pre- and post-natal growth restriction, microcephaly and a bird-like fetal... (Review)
Review
BACKGROUND
The Seckel syndrome is an autosomal recessive inherited disorder that characterized severe pre- and post-natal growth restriction, microcephaly and a bird-like fetal head appearance. A few clinical reports revealed prenatal sonographic findings in the literature.
CASE
A 29-year-old, Turkish, gravid 3, para 2, woman was referred to our center for further evaluation of a suspicion of microcephaly at 21 weeks' gestation. The couple was third degree consanguineous. Detailed 2- and 3-dimensional sonography scan revealed a bird-headed appearance, prominent eyes with hypotelorism, a severe microcephaly (bi-parietal diameter and head circumference were both < 1. Percentile for 21 weeks' gestation), a beaked nose, and increased nuchal fold thickness measurement (> 95th percentile), low-set and prominent ears. All sonographic findings suggested Seckel syndrome and the couple elected termination of pregnancy in the present case.
SUMMARY
Seckel syndrome should be kept in mind in the differential diagnosis of severe microcephaly, accompanied by fetal growth restriction. 3D ultrasound is a useful adjuvant to routine 2D sonography for prenatal diagnosis of the syndrome and can delineate abnormal fetal head appearance (a bird-headed profile).
Topics: Adult; Dwarfism; Facies; Female; Humans; Microcephaly; Pregnancy; Pregnancy Trimester, Second; Ultrasonography, Prenatal
PubMed: 29284336
DOI: 10.1080/14767058.2017.1419467 -
Ryoikibetsu Shokogun Shirizu 2000
Review
Topics: Chromosome Breakage; Diagnosis, Differential; Dwarfism; Face; Genes, Recessive; Humans; Microcephaly; Prognosis; Syndrome
PubMed: 11212716
DOI: No ID Found -
Ryoikibetsu Shokogun Shirizu 2001
Review
Topics: Dwarfism; Facies; Growth Disorders; Humans; Intellectual Disability; Microcephaly; Syndrome
PubMed: 11528927
DOI: No ID Found