scholarly journals Clinical and genetic characteristics and orthopedic manifestations of the Saul–Wilson syndrome in two Russian patients

2021 ◽  
Vol 8 (4) ◽  
pp. 451-460
Author(s):  
Tatyana V. Markova ◽  
Vladimir M. Kenis ◽  
Evgenii V. Melchenko ◽  
Nina A. Demina ◽  
Polina Gundorova ◽  
...  
Keyword(s):  
Age Groups ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Protein Molecule ◽  
Published Data ◽  
Genetic Characteristics ◽  
Major Mutation ◽  
The Face ◽  
Modern Classification ◽  
Thin Bone

Background. SaulWilson syndrome (SWS, microcephalic osteodysplastic dysplasia) is a rare genetic variant of skeletal dysplasia and is determined based on the modern classification for thin bone dysplasias. To date, 16 patients with SWS from different countries have been identified. Clinical cases. We presented the first description of the clinical and genetic characteristics of two Russian patients with SWS and compared them with published data. The main clinical manifestations of SWS are characterized by a combination of nanism and pathology of long tubular bones, spine, and eyes. Changes in the phenotype of patients in different age groups were analyzed. Discussion. In the analysis of the clinical manifestations of the observed patients and patients described in the literature, typical dysmorphic features of the face and radiographic data help in the diagnosis of SWS upon clinical examination. In the majority of the described patients, the nucleotide substitution c.1546GA is the major mutation in the gene responsible for SWS, which leads to the replacement of the amino acid Gly516Arg in the protein molecule. Conclusion. Based on the identified specific features of the phenotype of patients with SWS and the presence of a major mutation in the COG4 gene, a priority analysis of gene mutations is necessary. Orthopedic manifestations of SWS can lead to life-threatening conditions (cervical spine instability) and motor limitations (progressive osteoarthritis) and thus should be monitored dynamically.

scholarly journals Clinical Characteristics of SARS-CoV-2 pneumonia diagnosed in a primary care practice in Madrid (Spain)

2020 ◽  
Author(s):  
Marina Guisado-Clavero ◽  
Ana Herrero Gil ◽  
Marta Pérez Álvarez ◽  
Marta Castelo Jurado ◽  
Ana Herrera Marinas ◽  
...  
Keyword(s):  
Primary Care ◽  
Clinical Characteristics ◽  
Primary Care Practice ◽  
Age Groups ◽  
Clinical Manifestations ◽  
Care Practice ◽  
Published Data ◽  
X Ray ◽  
Hospitalised Patients ◽  
Chest X Ray

Abstract Background: Possible cases of SARS-CoV-2 infection were diagnosed in primary care in Madrid, some of these cases had pneumonia. Most of the SARS-CoV-2 pneumonia published data came from hospitalised patients. This study set out to describe clinical characteristics of patients with SARS-CoV-2 pneumonia diagnosed in primary care across age groups and type of pneumonia.Methods: Observational retrospective study obtaining clinical data from the electronic health records of patients who were followed-up by SARS-CoV-2 possible infection in a primary care practice in Madrid. All the cases were collected by in-person or remote consultation during the 10th March to the 7th of April. Exposure: Diagnosis of SARS-CoV-2 pneumonia by chest X-ray ordered by the GP. Main outcomes and measures: Symptoms of SARS-CoV-2 pneumonia, physical examination and diagnostic tests as a blood test, nasopharyngeal swab results for RT-PCR (Reverse transcriptase-polymerase chain reaction) and chest X-ray results. Results: The overall SARS-CoV-2 pneumonias collected were 172 (female 87 [50.6%], mean age 60.5 years (standard deviation [SD] 17.0). Comorbidities were body mass index ≥25 kg/m 2 (90 [52.3%]), hypertension 83 [48.3%]), dyslipidaemia (68 [39.5%]) and diabetes (33 [19.2%]). The sample was stratified by age groups (<50 years, 50-75 years and ≥75 years). Clinical manifestations at onset were fever (144 [83.7%]), cough (140 [81.4%]), dyspnoea (103 [59.9%]) and gastrointestinal disturbances (72 [41.9%]). Day 7.8 (SD:4.1) from clinical onset was the mean day of pneumonia diagnosis. Bilateral pneumonia was more prevalent than unilateral (126 [73.3%]) and 46 [26.7%]). Patients with unilateral pneumonia were prone to higher pulse oximetry (96% vs 94%, p <0.001). We found differences between unilateral and bilateral cases in C-reactive protein (29.6 vs 81.5mg/L, p <0.001), and lymphocytes (1400.0 vs 1000.0E3/ml, p<0.001). Complications were registered: 42 (100%) of patients ≥75 years were admitted into hospital; pulmonary embolism was only present at bilateral pneumonia (7 patients [5.6%]) and death occurred in 1 patient with unilateral pneumonia (2.2%) vs 10 patients (7.9%) with bilateral pneumonia ( p 0.170).Conclusion: Clinical manifestations of SARS-CoV-2 pneumonia were fever, cough and dyspnoea; this was especially clear in the elderly. We described different characteristics between unilateral and bilateral pneumonia.

scholarly journals Clinical characteristics of SARS-CoV-2 pneumonia diagnosed in a primary care practice in Madrid (Spain)

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Marina Guisado-Clavero ◽  
Ana Herrero Gil ◽  
Marta Pérez Álvarez ◽  
Marta Castelo Jurado ◽  
Ana Herrera Marinas ◽  
...  
Keyword(s):  
Primary Care ◽  
Clinical Characteristics ◽  
Primary Care Practice ◽  
Age Groups ◽  
Clinical Manifestations ◽  
Care Practice ◽  
Published Data ◽  
X Ray ◽  
Hospitalised Patients ◽  
Chest X Ray

Abstract Background Possible cases of SARS-CoV-2 infection were diagnosed in primary care in Madrid, some of these cases had pneumonia. Most of the SARS-CoV-2 pneumonia published data came from hospitalised patients. This study set out to describe clinical characteristics of patients with SARS-CoV-2 pneumonia diagnosed in primary care across age groups and type of pneumonia. Methods Observational retrospective study obtaining clinical data from the electronic health records of patients who were followed-up by SARS-CoV-2 possible infection in a primary care practice in Madrid. All the cases were collected by in-person or remote consultation during the 10th March to the 7th of April. Exposure: Diagnosis of SARS-CoV-2 pneumonia by chest X-ray ordered by the GP. Main outcomes and measures: Symptoms of SARS-CoV-2 pneumonia, physical examination and diagnostic tests as a blood test, nasopharyngeal swab results for RT-PCR (Reverse transcriptase-polymerase chain reaction) and chest X-ray results. Results The overall SARS-CoV-2 pneumonias collected were 172 (female 87 [50.6%], mean age 60.5 years standard deviation [SD] 17.0). Comorbidities were body mass index ≥ 25 kg/m2 (90 [52.3%]), hypertension (83 [48.3%]), dyslipidaemia (68 [39.5%]) and diabetes (33 [19.2%]). The sample was stratified by age groups (< 50 years, 50–75 years and ≥ 75 years). Clinical manifestations at onset were fever (144 [83.7%]), cough (140 [81.4%]), dyspnoea (103 [59.9%]) and gastrointestinal disturbances (72 [41.9%]). Day 7.8 (SD:4.1) from clinical onset was the mean day of pneumonia diagnosis. Bilateral pneumonia was more prevalent than unilateral (126 [73.3%] and 46 [26.7%]). Patients with unilateral pneumonia were prone to higher pulse oximetry (96% vs 94%, p < 0.001). We found differences between unilateral and bilateral cases in C-reactive protein (29.6 vs 81.5 mg/L, p < 0.001), and lymphocytes (1400.0 vs 1000.0E3/ml, p < 0.001). Complications were registered: 42 (100%) of patients ≥ 75 years were admitted into hospital; pulmonary embolism was only present at bilateral pneumonia (7 patients [5.6%]) and death occurred in 1 patient with unilateral pneumonia (2.2%) vs 10 patients (7.9%) with bilateral pneumonia ( p 0.170). Conclusion Clinical manifestations of SARS-CoV-2 pneumonia were fever, cough and dyspnoea; this was especially clear in the elderly. We described different characteristics between unilateral and bilateral pneumonia.

scholarly journals Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia

2018 ◽  
Vol 7 (12) ◽  
pp. 1251-1261
Author(s):  
Zi-Di Xu ◽  
Wei Zhang ◽  
Min Liu ◽  
Huan-Min Wang ◽  
Pei-Pei Hui ◽  
...  
Keyword(s):  
Clinical Manifestations ◽  
Gene Mutations ◽  
Chinese Children ◽  
Treatment Modalities ◽  
Partial Pancreatectomy ◽  
Genetic Characteristics ◽  
Pathogenic Genes ◽  
Second Generation Sequencing ◽  
Long Term Prognosis

This study aims to summarize and analyze the clinical manifestations, genetic characteristics, treatment modalities and long-term prognosis of congenital hyperinsulinemia (CHI) in Chinese children. Sixty children with CHI, who were treated at Beijing Children’s Hospital from January 2014 to August 2017, and their families, were selected as subjects. The CHI-related causative genes in children were sequenced and analyzed using second-generation sequencing technology. Furthermore, the genetic pathogenesis and clinical characteristics of Chinese children with CHI were explored. Among the 60 CHI children, 27 children (27/60, 45%) carried known CHI-related gene mutations: 16 children (26.7%) carried ABCC8 gene mutations, seven children (11.7%) carried GLUD1 gene mutations, one child carried GCK gene mutations, two children carried HNF4α gene mutations and one child carried HADH gene mutations. In these 60 patients, eight patients underwent 18F-L-DOPA PET scan for the pancreas, and five children were found to be focal type. The treatment of diazoxide was ineffective in these five patients, and hypoglycemia could be controlled after receiving partial pancreatectomy. In conclusion, ABCC8 gene mutation is the most common cause of CHI in Chinese children. The early genetic analysis of children’s families has an important guiding significance for treatment planning and prognosis assessment.

scholarly journals Clinical and genetic characteristics of patients with type 2 early infantile epileptic encephalopathy caused by CDKL5 gene mutations

2020 ◽  
Vol 14 (3) ◽  
pp. 28-36
Author(s):  
E. L. Dadali ◽  
I. A. Akimova ◽  
F. A. Konovalov ◽  
P. A. Shatalov ◽  
A. Yu. Krasnenko ◽  
...  
Keyword(s):  
Genetic Variant ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Epileptic Seizures ◽  
Epileptic Encephalopathy ◽  
Psychomotor Retardation ◽  
Dominant Inheritance ◽  
Common Genetic Variant ◽  
Genetic Characteristics

Early infantile epileptic encephalopathies (EIEE) are a group of disorders characterized by pharmacoresistant epileptic seizures manifesting in infancy and leading to psychomotor retardation. The most common genetic variant with X-linked dominant inheritance is type 2 EIEE associated with CDKL5 gene mutations. We evaluated the prevalence of this type of EIEE among Russian patients (n = 148) with epileptic seizures manifesting in infancy and analyzed their clinical and genetic characteristics. We performed exome sequencing for all patients; 15 (10 %) of them (aged between 2 months and 5 years) were found to have CDKL5 gene mutations and were, therefore, diagnosed with type 2 EIEE. The results of correlation analysis suggest that the severity of clinical manifestations of type 2 EIEE is largely determined by the location of mutations affecting the function of the protein encoded by this gene. This is important to ensure better understanding of type 2 EIEE etiology and predict it severity in patients with different allelic variants.

scholarly journals Evaluation of the clinical effectiveness of the method of Skin Rejuvenation using Electrostimulation

2021 ◽  
pp. 01-10
Author(s):  
Gagik Hakobyan ◽  
Khachik Khachikyan ◽  
Karyna Shoman ◽  
Krasnopeeva Ekaterina ◽  
Mkhitaryan Lilit
Keyword(s):  
Age Groups ◽  
Clinical Manifestations ◽  
Clinical Effectiveness ◽  
Individual Case ◽  
Long Term Results ◽  
Skin Rejuvenation ◽  
Novel Therapy ◽  
Personal Conversation ◽  
Before And After ◽  
The Face

Objectives: Purpose of the study evaluation of the cosmetic effect using the "Ajayan" plaster for facial rejuvenation. Materials and Methods: The study was carried out in 106 participants with presence of perioral wrinkles of the skin. Participants applied four patches (2 copper and 2 zinc) on the face in the area of wrinkles crosswise according to the instructions. The patches were applied for eight hours every third day for three months. The participants tactilely and visually assessed the effects of the patch for three months. Clinical assessment of treatment results (satisfaction by subject and investigator physician) was performed. The immediate results were assessed 1 month after the course and long-term results at the end of 3 months of observation. Perioral wrinkles were assessed by comparing photographs at the beginning and at the end of the study for each individual case. The efficacy was assessed according to the International Global Aesthetic Improvement Scale (GAIS Table 1-3) on the 1st (M01), 2nd (M02), 3rd (M03), 6th (M06) month of complex therapy. Visual confirmation of clinical improvement was also obtained by Life Viz 3D camera pictures. Results: After analyzing the photographs taken before and after using the patch (Figure 1-3) and a personal conversation with each participant, the following data were obtained from participants: • a decrease in puffiness and dark circles under the eyes was noted: 6 out of 15 men, 34 out of 91 women; • smoothing of small mimic wrinkles was noted: 24 women out of 106 people; • lifting of the face oval was noted: 14 women out of 106 people. Evaluation of the effectiveness of the GAIS procedure on M03 and M05, 2/3 of patients had significant improvement as assessed by physician and participants according to GAIS (Table 3). Most of the patients also showed significant improvement at visit M12, Table 3. After analyzing the photographs taken before and after the experiment, and a personal conversation with each patient of the cosmetology profile, the following results were obtained: in 38% of patients, puffiness and dark circles under the eyes decreased, in 23% of participants fine facial wrinkles were smoothed, in 12% of participants the oval of the face was tightened. Our results suggest that "Ajanyan" plaster can serve as a novel therapy for controlled skin rejuvenation, effective wrinkles and folds. Conclusion: The results of the studies provide a basis for concluding that the method of skin rejuvenation using electrostimulation method is effective on the clinical manifestations skin. The "Ajayan" plaster has proven its effectiveness through electrical stimulation with low intensity current in patients in different age groups, the study revealed a large number of positive cosmetic effects. Keywords: Wrinkles; Skin rejuvenation; Novel method of electrostimulation

scholarly journals Clinical Characteristics of SARS-CoV-2 pneumonia diagnosed in a primary care practice in Madrid (Spain)

2020 ◽  
Author(s):  
Marina Guisado-Clavero ◽  
Ana Herrero Gil ◽  
Marta Pérez Álvarez ◽  
Marta Castelo Jurado ◽  
Ana Herrera Marinas ◽  
...  
Keyword(s):  
Primary Care ◽  
Clinical Characteristics ◽  
Primary Care Practice ◽  
Age Groups ◽  
Clinical Manifestations ◽  
Care Practice ◽  
Published Data ◽  
X Ray ◽  
Hospitalised Patients ◽  
Chest X Ray

Abstract Background: Possible cases of SARS-CoV-2 infection were diagnosed in primary care in Madrid, some of these cases had pneumonia. Most of the SARS-CoV-2 pneumonia published data came from hospitalised patients. This study set out to describe clinical characteristics of patients with SARS-CoV-2 pneumonia diagnosed in primary care across age groups and type of pneumonia.Methods: Observational retrospective study obtaining clinical data from the electronic health records of patients who were followed-up by SARS-CoV-2 possible infection in a primary care practice in Madrid. All the cases were collected by in-person or remote consultation during the 10th March to the 7th of April. Exposure: Diagnosis of SARS-CoV-2 pneumonia by chest X-ray ordered by the GP. Main outcomes and measures: Symptoms of SARS-CoV-2 pneumonia, physical examination and diagnostic tests as a blood test, nasopharyngeal swab results for RT-PCR (Reverse transcriptase-polymerase chain reaction) and chest X-ray results. Results: The overall SARS-CoV-2 pneumonias collected were 172 (female 87 [50.6%], mean age 60.5 years (standard deviation [SD] 17.0). Comorbidities were body mass index ≥25 kg/m 2 (90 [52.3%]), hypertension 83 [48.3%]), dyslipidaemia (68 [39.5%]) and diabetes (33 [19.2%]). The sample was stratified by age groups (<50 years, 50-75 years and ≥75 years). Clinical manifestations at onset were fever (144 [83.7%]), cough (140 [81.4%]), dyspnoea (103 [59.9%]) and gastrointestinal disturbances (72 [41.9%]). Day 7.8 (SD:4.1) from clinical onset was the mean day of pneumonia diagnosis. Bilateral pneumonia was more prevalent than unilateral (126 [73.3%]) and 46 [26.7%]). Patients with unilateral pneumonia were prone to higher pulse oximetry (96% vs 94%, p <0.001). We found differences between unilateral and bilateral cases in C-reactive protein (29.6 vs 81.5mg/L, p <0.001), and lymphocytes (1400.0 vs 1000.0E3/ml, p<0.001). Complications were registered: 42 (100%) of patients ≥75 years were admitted into hospital; pulmonary embolism was only present at bilateral pneumonia (7 patients [5.6%]) and death occurred in 1 patient with unilateral pneumonia (2.2%) vs 10 patients (7.9%) with bilateral pneumonia ( p 0.170).Conclusion: Clinical manifestations of SARS-CoV-2 pneumonia were fever, cough and dyspnoea; this was especially clear in the elderly. We described different characteristics between unilateral and bilateral pneumonia.

scholarly journals Six New Mutations of the Thyroglobulin Gene Discovered in Taiwanese Children Presenting with Thyroid Dyshormonogenesis

2009 ◽  
Vol 94 (12) ◽  
pp. 5045-5052 ◽  
Author(s):  
Dau-Ming Niu ◽  
Ju-Hui Hsu ◽  
Kah-Wai Chong ◽  
Cheng-Hung Huang ◽  
Yung-Hsiu Lu ◽  
...  
Keyword(s):  
De Novo ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Amino Acid Residues ◽  
De Novo Mutations ◽  
Study Objective ◽  
Genetic Characteristics ◽  
Thyroid Dyshormonogenesis ◽  
Taiwan Chinese ◽  
Thyroglobulin Gene

Background: Thyroglobulin (TG) defect is a rare cause of congenital hypothyroidism. Although only 44 mutations of the human TG gene have been identified, we have suspected a TG defect in 38% of Taiwan Chinese children/adolescents presenting with moderate or severe thyroidal dyshormonogenesis. Study Objective: The aim of the study is to report the discovery of new TG gene mutations and associated clinical manifestations of the defective TG protein. Patients and Results: In seven patients from six families, we detected six new TG gene mutations, including c.1348delT, p.R432X (c.1351C&gt;T), g.IVS3 + 2T&gt;G, c.1712delT, p.Q1765X (c.5350C&gt;T), and c.6047delA. The c.1348delT and p.R432X mutations were the most common, detected in 33 and 25%, respectively, of alleles studied. Haplotype analysis suggested that the c.1348delT and g.IVS3 + 2T&gt;G mutations are due to founder effects, whereas p.R432X is probably due to independently recurrent de novo mutations. mRNA transcript of the g.IVS3 + 2T&gt;G mutant, detected in whole blood by reverse transcription-nested PCR, showed skipping of exon 3 (98-bp deletion) and a frameshift, with a terminal signal after 17 altered amino acid residues. Conclusions: TG defects have an important role in severe thyroidal dyshormonogenesis (pretreatment, or after a 3-wk T4 withdrawal, plasma T4 ≦ 30 nmol/liter) in Taiwanese. Its genetic characteristics are markedly different from those described in other populations presenting with mutations of the TG gene.

scholarly journals Clinical and genetic characteristics of new allele variants of the Mowat–Wilson syndrome caused by ZEB2 gene mutations

2018 ◽  
Vol 8 (3) ◽  
pp. 28-33
Author(s):  
I. A. Akimova ◽  
T. V. Markova ◽  
F. A. Konovalov ◽  
A. V. Antonets ◽  
E. L. Dadali
Keyword(s):  
Intellectual Development ◽  
Survey Methods ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Speech Development ◽  
Hereditary Diseases ◽  
Genetic Characteristics ◽  
Monogenic Diseases ◽  
Long Time ◽  
Nextgeneration Sequencing

To date, a large number of monogenic diseases and syndromes, in the clinical picture of which there are convulsions, a psycho-speech development delay and dysmorphic features have been described. One of the hereditary syndromes with a specific phenotype is the Movat–Wilson syndrome. To diagnose the syndrome, a set of survey methods was used: genealogical analysis, neurological examination, evaluation of intellectual development with the help of psychological tests, and sequencing of the new generation exome. As a result of sequencing exome on the panel of genes responsible for the emergence of hereditary epilepsy, two patients of different sex at the age of 10 and 5 years were identified with previously not described mutations in the ZEB2 gene in the heterozygous state. Clinical manifestations of the disease in these patients were of varying degrees of severity, which can be explained in terms of the functional significance of the changes detected. The variety of clinical manifestations of the same disease leads to considerable difficulties in diagnosing, however, due to the introduction of the nextgeneration sequencing in medical practice, the effectiveness of diagnosing hereditary diseases and syndromes, the verification of which has been difficult for a long time, has increased significantly.

scholarly journals VARIETY OF CLINICAL MANIFESTATIONS IN MUTATIONS IN THE DYNC1H1 GENE

2019 ◽  
pp. 31-36
Author(s):  
I. V. Sharkova ◽  
P. A. Shatalov ◽  
E. L. Dadali
Keyword(s):  
Protein Function ◽  
Muscular Atrophy ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Hereditary Diseases ◽  
Clinical Markers ◽  
Tail Domain ◽  
Genetic Characteristics ◽  
Main Method ◽  
Brain Malformations

Introduction. To date, DYNC1H1 gene mutations are known for large number of hereditary diseases. It is believed that different mutations have variable effects to protein function and, accordingly, to various clinical manifestations. Results. There are a clinical and genetic characteristics of two Russian patients with two types of diseases: spinal muscular atrophy with predominant lesion of the lower extremities (SMALED) and non-syndromic mental retardation type 13 (MR13) in combination with a brain malformations and epilepsy due to newly identified mutations in the DYNC1H1 gene. Conclusion There is some evidence in support of the hypothesis that the amino acid sequence changing in the tail domain of dynein lead to the appearance of SMALED, and in the motor domain lead to MR13. Exome or genome sequencing are required as the main method for their diagnosis due to the high genetic heterogeneity of non-syndromic MR and SMALED, the lack of specific clinical markers and hotspot mutations in the DYNC1H1 gene.

Facial Perceptions: Age's Influence on People's Perceptions of Facial Modifications

2010 ◽  
Vol 6 ◽  
Author(s):  
Nascine Howell ◽  
Lindsey Erin Overhalser ◽  
Abigail Eliza Randall ◽  
Rachael Dillon
Keyword(s):  
Age Groups ◽  
Likert Scale ◽  
Online Surveys ◽  
People’S Perception ◽  
The Face ◽  
Subject Experiment ◽  
People’S Perceptions

A 2x7 between-subject experiment examined the affect of age on people’s perceptions of facial modifications. Researchers instructed participants aged 18-60 to complete two online surveys. One survey contained 10 modified faces (facial piercings and neck tattoos) and the second survey contained 10 non-modified faces. Participants were instructed to look at each face and rate the face using a 5 point Likert scale on five traits: Trustworthiness, Attractiveness, Confidence, Intelligence and Friendliness. Modified faces were rated higher and perceived more positively than the non-modified faces by participants in all age groups. There was an effect of modification on age groups one (18-23 years old), two (24-29 years), five (30-35 years) and six (36-41 years) for the traits Attractiveness and Confidence. These findings suggest people’s perception of strangers’ is influenced by their own age at the time of the encounter and the age of the faces.

Sign in / Sign up

Export Citation Format

Share Document