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1.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(10): 985-988, 2021 Oct 10.
Artigo em Chinês | MEDLINE | ID: mdl-34625938

RESUMO

OBJECTIVE: To analyze the clinical phenotype and pathogenic variant in a child diagnosed with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). METHODS: Clinical phenotype of the child was reviewed. Whole exome sequencing was carried out for the child. Candidate variant was verified by Sanger sequencing of the family member. RESULTS: The proband manifested dyskinesia, development delay, cerebellar hypoplasia and bilateral hearing impairment. WES results revealed that the proband has carried a pathogenic c.1641_1644delACAA (p.Thr548Trpfs*69) variant of the CASK gene, which was verified by Sanger sequencing to be a de novo variant. CONCLUSION: The c.1641_1644delACAA (p.Thr548Trpfs*69) variant of the CASK gene probably underlay the MICPCH in the proband. Above finding has provided a basis for genetic counseling. WES should be considered for the diagnosis of neurological dysplasia.


Assuntos
Microcefalia , Malformações do Sistema Nervoso , Cerebelo/anormalidades , Criança , Deficiências do Desenvolvimento , Família , Humanos , Retardo Mental Ligado ao Cromossomo X , Microcefalia/genética
3.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(9): 841-844, 2021 Sep 10.
Artigo em Chinês | MEDLINE | ID: mdl-34487526

RESUMO

OBJECTIVE: To analyze the phenotype and genetic variant of a fetus with dysplasia of cerebellar vermis. METHODS: Gestational status and family history of the gravida was taken in combination with the imaging results of the fetus. Following elected abortion, fetal tissue and peripheral blood samples of the couple were collected for the extraction of genome DNA. Whole exome sequencing was carried out to screen potential variant associated with the phenotype of the proband. Specific PCR primers were designed to verify the results by Sanger sequencing. RESULTS: Prenatal ultrasound revealed that the fetal vermis cerebellum was poorly developed, which was similar to the previous pregnancy. Whole exome sequencing revealed that the fetus has carried compound heterozygous variants of the CPLANE1 gene, namely c.7978C>T and c.7169delT, which were respectively inherited from the husband and wife. CONCLUSION: The c.7978C>T and c.7169delT compound heterozygous variants of the CPLANE1 gene probably underlay the dysplasia of cerebellar vermis in the fetus, which has provided a basis for genetic counseling and prenatal diagnosis.


Assuntos
Anormalidades Múltiplas , Anormalidades do Olho , Doenças Renais Císticas , Anormalidades Múltiplas/genética , Cerebelo/anormalidades , Cerebelo/diagnóstico por imagem , Anormalidades do Olho/genética , Feminino , Feto , Humanos , Mutação , Fenótipo , Gravidez , Retina/anormalidades
4.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(9): 861-864, 2021 Sep 10.
Artigo em Chinês | MEDLINE | ID: mdl-34487531

RESUMO

OBJECTIVE: To explore the genotype-phenotype correlation in a child with Kabuki syndrome type 1 (KS1) caused by a mosaic frameshift variant of KMT2D gene. METHODS: Trio-based whole exome sequencing (WES) was carried for the patient and her parents. Candidate variant was verified by Sanger sequencing. RESULTS: The proband, a 3-year-and-2-month-old Chinese girl, presented with distinctive facial features, cognitive impairment, mild developmental delay, dermatoglyphic abnormalities, minor skeletal anomalies, ventricular septal defect, and autistic behavior. Trio-based WES revealed that the proband has carried a de novo mosaic frameshit variant of the KMT2D gene, namely NM_003482.3:c.13058delG (p.Pro4353Argfs*31) (GRCh37/hg19), for which the mosaicism rate was close to 21%. The variant was unreported previously and was confirmed by Sanger sequencing. Chromosomal microarray analysis (CMA) has revealed no pathogenic or likely pathogenic copy number variations. Compared with previously reported cases, our patient has presented obvious behavior anomalies including autism, anxiety and sleep problems, which were rarely reported. CONCLUSION: This study has expanded the spectrum of KMT2D gene variants, enriched the clinical phenotypes of KS1, and facilitated genetic counseling for the family.


Assuntos
Variações do Número de Cópias de DNA , Proteínas de Ligação a DNA , Anormalidades Múltiplas , China , Proteínas de Ligação a DNA/genética , Face/anormalidades , Feminino , Doenças Hematológicas , Humanos , Lactente , Proteínas de Neoplasias/genética , Fenótipo , Doenças Vestibulares
5.
BMC Pediatr ; 21(1): 379, 2021 09 03.
Artigo em Inglês | MEDLINE | ID: mdl-34479534

RESUMO

OBJECTIVE: A significant number of patients with KS have cleft palate (CP) or submucous cleft palate (SMCP) and show delayed speech development. However, few reports have discussed the characteristics of CP in KS and the outcomes of postoperative speech development. The purpose of this study was to investigate the characteristics and surgical outcomes of CP in patients with KS, and to discuss the importance of the diagnosis of CP or SMCP. METHODS: We conducted a retrospective study on patients with clinically diagnosed KS who underwent palatoplasty. Clinical and surgical data were collected from patients' medical records, and velopharyngeal function was evaluated using nasopharyngoscopy and speech analysis. RESULTS: In 11 cases, 5 patients had CP (45.5%) and 6 had SMCP (54.5%). Four patients who were genetically tested had a pathogenic variant of KMT2D. Seven of nine patients (77.8%) who underwent conventional palatoplasty showed velopharyngeal insufficiency and hypernasality. All patients who underwent pharyngeal flap surgery achieved velopharyngeal competency. Statistical analysis revealed a statistically significant difference in postoperative results between non-syndromic and KS patients. CONCLUSION: Patients with SMCP may be more common than previously reported. The results showed that it is difficult to produce optimal results with conventional palatoplasty; therefore, pharyngeal flap surgery should be considered as a treatment to obtain favorable results. Pharyngeal flap surgery in patients with KS should be carefully designed based on speech evaluation and nasopharyngoscopic findings.


Assuntos
Anormalidades Múltiplas , Fissura Palatina , Anormalidades Múltiplas/cirurgia , Fissura Palatina/diagnóstico , Fissura Palatina/cirurgia , Face/anormalidades , Doenças Hematológicas , Humanos , Estudos Retrospectivos , Resultado do Tratamento , Doenças Vestibulares
6.
JNMA J Nepal Med Assoc ; 59(240): 738-740, 2021 Aug 12.
Artigo em Inglês | MEDLINE | ID: mdl-34508475

RESUMO

INTRODUCTION: Eagle's syndrome is a poorly understood clinical entity that has variable presentations like recurrent throat pain or foreign body sensation, dysphagia, or facial pain. With a confirmed diagnosis, a surgical approach is considered appropriate for its treatment. This study aims to find out the prevalence of trans-oral extra tonsillar approach of styloidectomy among the operated cases of Department of Otolaryngology-Head and Neck Surgery at a tertiary care hospital. METHODS: A descriptive cross-sectional study was conducted among 1,475 who underwent surgery at the Department of Otolaryngology-Head and Neck Surgery in a tertiary care center of Nepal between July 2018 to September 2020 after receiving the ethical clearance from the Institutional Review Committee (Reference number: 0106201802). Convenience sampling was done and data was entered in Statistical Package for the Social Sciences version 20. Point estimate at 95% confidence interval was calculated along with frequency and proportion for binary data. RESULTS: Among 1,475 patients enrolled in the study, 24 (1.62%) patients (95% Confidence Interval= 0.97-2.26) underwent trans-oral extra tonsillar approach of surgery for Eagle's syndrome during the study duration. CONCLUSIONS: The prevalence of styloidectomy among the operated cases of our study is low in comparison to other studies done in similar settings. Transoral extra tonsillar approach can be considered as a novel approach for surgical removal of the styloid process in Eagle's Syndrome.


Assuntos
Ossificação Heterotópica , Otolaringologia , Estudos Transversais , Humanos , Ossificação Heterotópica/epidemiologia , Ossificação Heterotópica/cirurgia , Osso Temporal/anormalidades , Centros de Atenção Terciária
7.
Lakartidningen ; 1182021 Aug 20.
Artigo em Sueco | MEDLINE | ID: mdl-34498244

RESUMO

The term inconspicuous penis in children covers both micropenis with a penile length less than 2.5 SD for age and other conditions with a normal length of corpora, but when the penis looks smaller due to other diagnoses. Micropenis in a newborn is a serious condition that needs immediate attention by a paediatric endocrinologist. The boy should have a continuous support until adulthood. Other conditions that resembles micropenis are for example buried or webbed penis that only affects the skin or the adherence of the skin to the penile body, so that penis looks smaller even though the corpora are of normal length. Such conditions are treated and often operated by pediatric urologists. A proper clinical examination distinguishes between these diagnoses and gives a possibility to direct the child to the proper treatment without unnecessary concern for the parents.


Assuntos
Doenças dos Genitais Masculinos , Adulto , Criança , Diagnóstico Diferencial , Humanos , Recém-Nascido , Masculino , Pênis/anormalidades
8.
Medicine (Baltimore) ; 100(35): e26996, 2021 Sep 03.
Artigo em Inglês | MEDLINE | ID: mdl-34477129

RESUMO

ABSTRACT: To reveal the role of the postoperative choledochoscopy in treating the residual calculi in the caudate lobe (CL) of the liver.We recruited 66 patients with T-tube/percutaneous transhepatic cholangioscopy tract who still had residual gallstones in the CL at least 6 weeks after the operation. Imaging examinations determined the gallstones' locations in the patients, and all of them underwent the postoperative choledochoscopic examination through the T-tube/percutaneous transhepatic cholangioscopy tract for therapeutic intervention.Among the 66 patients, the residual gallstones were mostly located in the Spiegel lobe (48/66, 72.7%), and the residual gallstones that located in the origin of the CL bile branches were successfully determined in the 57 patients (57/66, 86.4%), the remaining 9 patients were unclear because the proximal ducts were severely narrow or even atresia. The mean frequency of the postoperative choledochoscopy was 3.6 (range, 1-10) times. There were 9 patients with complications, and no mortality occurred. In the origin-proved 57 patients, 6 patients failed to remove the gallstones altogether, and the final residual gallstone clearance rate was 77.3% (51/66). There was no significant difference between the Spiegel lobe and the other parts of the CL in determining the bile duct's origins, gallstone clearance rate, and complications. However, the frequency of choledochoscopy in the other parts of the CL was more than in the Spiegel lobe.The postoperative choledochoscopy, an essential method for treating the residual gallstones in the CL, commands high efficiency for calculi extraction and fewer complications. The main reasons for failing to remove the residual gallstones are that the bile duct's origins could not be determined, and the distal bile ducts are atretic in the CL.


Assuntos
Sistema Biliar/diagnóstico por imagem , Coledocolitíase/diagnóstico por imagem , Adulto , Idoso , Idoso de 80 Anos ou mais , Sistema Biliar/anormalidades , Feminino , Humanos , Laparoscopia/métodos , Masculino , Pessoa de Meia-Idade , Período Pós-Operatório , Estudos Retrospectivos
9.
Environ Toxicol Pharmacol ; 87: 103738, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34492396

RESUMO

The effects of two drugs containing the synthetic thyroid hormone levothyroxine (LEV) and an anti-thyroid drug containing propylthiouracil (PTU) on the three early life stages of Xenopus laevis were evaluated with the Frog Embryo Teratogenesis Assay-Xenopus, Tadpole Toxicity Test, and Amphibian Metamorphosis Assay using biochemical and morphological markers. Tested drugs caused more effective growth retardation in stage 8 embryos than stage 46 tadpoles. Significant inhibition of biomarker enzymes has been identified in stage 46 tadpoles for both drugs. AMA test results showed that LEV-I caused progression in the developmental stage and an increase in thyroxine level in 7 days exposure and growth retardation in 21 days exposure in stage 51 tadpoles. On the other hand, increases in lactate dehydrogenase activity for both drugs in the AMA test may be due to impacted energy metabolism during sub-chronic exposure. These results also show that the sensitivity and responses of Xenopus laevis at different early developmental stages may be different when exposed to drugs.


Assuntos
Antitireóideos/toxicidade , Embrião não Mamífero/efeitos dos fármacos , Larva/efeitos dos fármacos , Propiltiouracila/toxicidade , Teratógenos/toxicidade , Tiroxina/toxicidade , Xenopus laevis , Acetilcolinesterase/metabolismo , Animais , Carboxilesterase/metabolismo , Embrião não Mamífero/anormalidades , Embrião não Mamífero/enzimologia , Desenvolvimento Embrionário/efeitos dos fármacos , Feminino , Glutationa Redutase/metabolismo , Glutationa Transferase/metabolismo , Larva/enzimologia , Larva/crescimento & desenvolvimento , Masculino , Metamorfose Biológica/efeitos dos fármacos , Xenopus laevis/anormalidades , Xenopus laevis/crescimento & desenvolvimento , Xenopus laevis/metabolismo
11.
Eur J Obstet Gynecol Reprod Biol ; 265: 113-118, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34482235

RESUMO

OBJECTIVE: To evaluate the maternal and neonatal outcomes associated with vacuum-assisted vaginal delivery (VAVD) in a subset of parturients with congenital uterine anomalies. STUDY DESIGN: A retrospective database study was conducted at a single tertiary center between 2005 and 2019. Parturients with known congenital uterine anomalies who had vaginal deliveries were enrolled, whereas parturients with failed VAVD, didelphic uterus, and delivery after intrauterine fetal death were excluded. Various maternal and neonatal outcomes were compared between parturients who achieved spontaneous vaginal delivery (SVD) and those who delivered via VAVD. The maternal composite outcome was calculated for each group and included one or more of the following: post-partum hemorrhage, hemoglobin drop ≥ 4 gr/dL, blood transfusions, retained placental products, and obstetric anal sphincter injuries. Univariate analysis was performed followed by multivariate logistic regression analysis controlling for potential confounders. Adjusted odds ratios (aORs) and 95% confidence intervals (CIs) were calculated. RESULTS: After the application of the exclusion criteria, 332 parturients were found eligible. Of those, 289 (87%) had SVD and 43 (13%) had VAVD. VAVD was more common among primiparous parturients and epidural analgesia users. Parturients with VAVD had higher rates of third-degree perineal tear, postpartum hemorrhage, and blood transfusions. The maternal composite outcome was significantly more prevalent in the VAVD group (44.2% vs. 20.8%, p < 0.01). After controlling for potential confounders, the maternal composite outcome was found to be independently associated with VAVD (aOR 2.3, 95% CI 1.10-4.60). The neonatal results were overall comparable, except for scalp trauma and Erb's palsy/clavicular fracture, which were more prevalent in the VAVD group. CONCLUSION: In a special population of parturients with congenital uterine anomalies, VAVD was found to be associated with significantly higher rates of adverse maternal outcomes and perinatal birth trauma. These findings should be presented to parturients during consultations about modes of delivery.


Assuntos
Parto Obstétrico , Placenta , Feminino , Humanos , Recém-Nascido , Gravidez , Estudos Retrospectivos , Fatores de Risco , Anormalidades Urogenitais , Útero/anormalidades
12.
Pan Afr Med J ; 38: 11, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34567338

RESUMO

Introduction: the circle of Willis is an anatomical structure of clinical importance particularly in the evaluation of neurovascular diseases. Individuals show considerable variations in the anatomical configuration of the circle of Willis. A cross-sectional study was conducted to determine the distribution of morphological variations of the circle of Willis in Malawians and compare with other ethnic groups. Methods: brains were collected from twenty-four recently deceased black Malawians during autopsy at Queen Elizabeth Central Hospital, a referral teaching hospital in Blantyre, Malawi and fixed in 10% buffered formalin. Digital images of the interpeduncular region (exposing the circle of Willis) were taken with an 18.4 megapixels camera from the base of the brain. Whole-circle and segmental parameters of the circle of Willis were assessed using the Osiris computer programme and classified based on a 22-type classification scheme. Results: the following morphological variations were observed: hypoplasia, aplasia, asymmetry and accessory vessels. Typical circle of Willis was seen in 26% of the cases. Only six of the original twenty-two types were observed. Consistent with most previous studies, types 1, 3, 4, 6, 8 and 9 were common while types 10-22 were rare. Three variants not previously described in the original scheme (unilateral PcoA aplasia, AcoA duplication, and PcoA aplasia with contralateral PcoA hypoplasia) were observed in this study. Conclusion: anatomical variations of the circle of Willis in Malawians seem to be distributed in similar frequencies and patterns as in other more-diverse populations. Circle of Willis variants with potential predilection for atherogenesis and aneurysm formation exist in the Malawian population. These should be considered in clinical practice.


Assuntos
Grupo com Ancestrais do Continente Africano , Círculo Arterial do Cérebro/anatomia & histologia , Adolescente , Adulto , Idoso , Cadáver , Criança , Pré-Escolar , Círculo Arterial do Cérebro/anormalidades , Feminino , Humanos , Malaui , Masculino , Pessoa de Meia-Idade , Adulto Jovem
13.
Eur J Endocrinol ; 185(5): 691-705, 2021 Oct 11.
Artigo em Inglês | MEDLINE | ID: mdl-34516402

RESUMO

Objective: Next generation sequencing (NGS) has expanded the diagnostic paradigm turning the focus to the growth plate. The aim of the study was to determine the prevalence of variants in genes implicated in skeletal dysplasias in probands with short stature and mild skeletal anomalies. Design: Clinical and radiological data were collected from 108 probands with short stature and mild skeletal anomalies. Methods: A customized skeletal dysplasia NGS panel was performed. Variants were classified using ACMG recommendations and Sherloc. Anthropometric measurements and skeletal anomalies were subsequently compared in those with or without an identified genetic defect. Results: Heterozygous variants were identified in 21/108 probands (19.4%). Variants were most frequently identified in ACAN (n = 10) and IHH (n = 7) whilst one variant was detected in COL2A1, CREBBP, EXT1, and PTPN11. Statistically significant differences (P < 0.05) were observed for sitting height/height (SH/H) ratio, SH/H ratio standard deviation score (SDS), and the SH/H ratio SDS >1 in those with an identified variant compared to those without. Conclusions: A molecular defect was elucidated in a fifth of patients. Thus, the prevalence of mild forms of skeletal dysplasias is relatively high in individuals with short stature and mild skeletal anomalies, with variants in ACAN and IHH accounting for 81% of the cases. An elevated SH/H ratio appears to be associated with a greater probability in detecting a variant, but no other clinical or radiological feature has been found determinant to finding a genetic cause. Currently, we cannot perform extensive molecular studies in all short stature individuals so detailed clinical and radiological phenotyping may orientate which are the candidate patients to obtain worthwhile results. In addition, detailed phenotyping of probands and family members will often aid variant classification.


Assuntos
Estatura/genética , Osso e Ossos/anormalidades , Nanismo/genética , Osteocondrodisplasias/genética , Adolescente , Antropometria , Criança , Pré-Escolar , Feminino , Variação Genética , Lâmina de Crescimento/anormalidades , Heterozigoto , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Masculino , Linhagem , Prevalência
14.
A A Pract ; 15(8): e01506, 2021 Aug 04.
Artigo em Inglês | MEDLINE | ID: mdl-34347635

RESUMO

Neurologic conditions without prenatal optimization can pose anesthetic and obstetrical challenges. We present a case of Currarino syndrome; an autosomal dominant triad of agenesis of the sacrum, anterior sacral meningocele (ASM) with sacral teratomas, and anorectal stenosis; diagnosed during pregnancy; and the subsequent anesthetic considerations. The location, size, and risk of rupture of the ASM can create obstacles to delivery. Eligibility for neuraxial anesthesia should be made on a case-by-case basis with risk-benefit analysis, and deficits should be documented allowing prompt identification and intervention should complications arise. Multidisciplinary team coordination is vital to help facilitate maternal safety.


Assuntos
Anormalidades do Sistema Digestório , Meningocele , Canal Anal/anormalidades , Humanos , Meningocele/diagnóstico por imagem , Meningocele/cirurgia , Período Periparto , Reto/anormalidades , Sacro/anormalidades , Sacro/diagnóstico por imagem , Sacro/cirurgia , Siringomielia
15.
Isr Med Assoc J ; 23(8): 506-509, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34392628

RESUMO

BACKGROUND: Flexible flatfoot (FF) is a common foot deformity that can often consist of foot pain. Surgical treatment is designed to lengthen the lateral column. OBJECTIVES: To resolve whether radiographic standing feet measurements of normo-plantigrade feet and FF, symptomatic or not, differ and to determine whether the lateral column is shorter. METHODS: The study comprised 72 patients (127 feet) consecutive patients, 18 years of age and older, who were divided into three groups: normal feet (56), asymptomatic FF (29), and symptomatic FF (42). All patients had a standing anterior posterior (AP) and lateral radiographs. AP images were used for the measurement of the talocalcaneal angle, talar-1st metatarsal angle, and talonavicular coverage. Lateral X-rays were used to estimate the talocalcaneal angle, talar-1st metatarsal angle, calcaneal pitch, naviculocuboid overlap, and column ratio. RESULTS: All three of the AP radiograph measurements differed among groups, and higher values were measured in the symptomatic FF group. Post hoc analysis found that the talonavicular coverage and the talocalcaneal angles also differed between symptomatic and asymptomatic FF patients. While some lateral measurements differed within groups, only the lateral talar-1st metatarsal angle distinguished between asymptomatic and symptomatic patients. The lateral column length was not found to be shorter among FF patients, weather symptomatic or not. CONCLUSIONS: Only the talonavicular coverage, the AP talocalcaneal, and the lateral talar-1st metatarsal angles were found to differ between asymptomatic and symptomatic FF patients. The lateral column was not found to be shorter.


Assuntos
Doenças Assintomáticas , Pé Chato , Dor , Radiografia/métodos , Adulto , Antropometria/métodos , Correlação de Dados , Feminino , Pé Chato/diagnóstico por imagem , Pé Chato/fisiopatologia , Pé Chato/cirurgia , Deformidades Congênitas do Pé/diagnóstico por imagem , Humanos , Masculino , Ossos do Metatarso/diagnóstico por imagem , Dor/diagnóstico , Dor/etiologia , Posicionamento do Paciente/métodos , Articulação Talocalcânea/diagnóstico por imagem , Avaliação de Sintomas/métodos , Tálus/anormalidades , Tálus/diagnóstico por imagem
16.
BMJ Case Rep ; 14(8)2021 Aug 11.
Artigo em Inglês | MEDLINE | ID: mdl-34380690

RESUMO

Eagle's syndrome was first described by Watt Eagle in 1937, as a syndrome of vague orofacial and cervical pain. He reported two variants, classic styloid and stylocarotid artery syndrome. Eagle's syndrome is a non-perceived and underdiagnosed clinical condition of the head and neck. This anomalous entity presents with neck pain, globus sensation, difficulty in turning the head, dysphagia, odynophagia and various other symptoms occurring as a result of irritation to the nearby structures. The surgical management of Eagle's syndrome consists of two major approaches: the transoral and the transcervical approaches. We report a case of classic bilateral elongated styloid process syndrome, treated with transcervical styloidectomy for painful left elongated styloid process. This gave permanent relief to the patient. The transcervical surgical approach for resection of elongated styloid process in patients with Eagle's syndrome appears to be safe and effective, although the risk for transient marginal mandibular nerve weakness is notable.


Assuntos
Ossificação Heterotópica , Humanos , Masculino , Cervicalgia/etiologia , Ossificação Heterotópica/diagnóstico por imagem , Ossificação Heterotópica/cirurgia , Síndrome , Osso Temporal/anormalidades , Osso Temporal/diagnóstico por imagem , Osso Temporal/cirurgia
18.
BMJ Case Rep ; 14(8)2021 Aug 19.
Artigo em Inglês | MEDLINE | ID: mdl-34413033

RESUMO

Solitary fibrous tumours (SFTs) are a rare mesenchymal neoplasm with an incidence of 2.8 per 100 000 of which only 1% occur in the female genital tract. Doege-Potter syndrome is a paraneoplastic phenomenon associated with approximately 5%-10% of SFTs and is characterised by non-islet cell hypoglycaemia due to tumour production of low molecular weight insulin-like growth factor-II. We present the fourth confirmed case of female pelvic SFT with Doege-Potter syndrome and a literature review.


Assuntos
Nefropatias , Síndromes Paraneoplásicas , Tumores Fibrosos Solitários , Anormalidades Congênitas , Feminino , Humanos , Rim/anormalidades , Nefropatias/congênito , Síndromes Paraneoplásicas/diagnóstico , Síndromes Paraneoplásicas/etiologia , Tumores Fibrosos Solitários/diagnóstico por imagem , Tumores Fibrosos Solitários/cirurgia
19.
Medicine (Baltimore) ; 100(33): e26984, 2021 Aug 20.
Artigo em Inglês | MEDLINE | ID: mdl-34414977

RESUMO

BACKGROUND: There are various treatments for facial nerve palsy, and research into this topic is ongoing. In the present study, we carried out bibliometric and visualized analyses to identify the trends of research into facial nerve palsy treatment. METHODS: To identify articles, the SCOPUS database was searched for articles published from its inception to December 27, 2020. The search was conducted twice, with Search 1 investigating general treatment trends and Search 2 narrowing the scope to complementary and alternative treatment. The extracted keywords were analyzed using the Visualization Of Similarities (VOS) viewer. Through analysis of keywords, research hotspots in the treatment of facial nerve palsy were identified. RESULTS: A total of 1609 and 223 articles were identified in Searches 1 and 2, respectively. The number of articles published each year showed a tendency to increase, and most of the studies were only conducted in a few countries. In terms of subject area, "medicine" was overwhelmingly the most common(77.6%). Based on the analysis of 316 keywords in Search1, "medication treatment," and "complementary and alternative treatment" were the hotspots of research. CONCLUSION: This study provides the overall trends of facial nerve palsy treatment. To date, research on medication treatment has been main focus, and antiviral use among medication treatment and complementary and alternative treatment has emerged in recent years.


Assuntos
Bibliometria , Doenças do Nervo Oculomotor/terapia , Publicações/estatística & dados numéricos , Nervo Facial/anormalidades , Nervo Facial/fisiopatologia , Humanos , Publicações/tendências
20.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(8): 753-756, 2021 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-34365617

RESUMO

OBJECTIVE: Clinical examination and molecular genetic analysis were carried out for one case with special facial features with developmental retardation, hearing impairment and cleft lip and palate. METHODS: The intelligence test, hearing test, and MRI test were performed. At the same time, the blood were collected to detect the copy number variation of the whole genome with the chromosomal karyotype analysis and the chromosomal microarray analysis (CMA). And the whole exome sequencing (WES) was used to analyze the pathogenic variant. RESULTS: The children had mild mental retardation and the IQ was 61. There was moderate hearing loss in both ears(left ear 60 dB, right ear 65 dB). And bilateral horizontal hypoplasia of semicircular canal was found by cranial MRI test. No copy number abnormality was found by chromosome karyotype analysis and chromosome microarray analysis in peripheral blood. And whole exome sequencing suggested that there was heterozygous pathogenic variants in KMT2D gene (p.Leu545Argfs*385). CONCLUSION: The patient has a peculiar face and multiple system defects, and was diagnosed as Niikawa-Kuroki syndrome type I by KMT2D gene variant. The whole exome sequencing is helpful for the diagnosis of complex genetic diseases.


Assuntos
Anormalidades Múltiplas , Fenda Labial , Fissura Palatina , Criança , Variações do Número de Cópias de DNA , Face/anormalidades , Doenças Hematológicas , Humanos , Doenças Vestibulares
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