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1.
Article in Chinese | WPRIM | ID: wpr-888370

ABSTRACT

OBJECTIVE@#To explore gender difference in the clinical manifestations of two children with Keishi-Bukuryo-Gan syndrome (KBGS).@*METHODS@#Clinical manifestations of the two children were reviewed. Genetic testing was carried out through next generation sequencing (NGS). Treatment was summarized, and the prognosis was followed up.@*RESULTS@#Both children showed particular appearance including megatooth, abnormal hair distribution, hands' abnormality and language development delay. NGS revealed that both children have carried pathogenic variants of the ANKRD11 gene (c.1903_1907del and c.4911delT), which resulted in shifting of amino acid sequences starting from the Lysine and Proline at positions 635 and 1638, respectively. The female patient exhibited central precocious puberty. Her height has increased by 13 cm, and sex characteristics has retracted after treatment with leuprorelin for 23 months and recombinant human growth hormone for 1 month.@*CONCLUSION@#Comparison of the two cases with different genders and summary of previously reported cases found that male KBGS patients have more obvious dysmorphisms such as triangular face, synophrys, ocular hypertelorism and vertebral body abnormality, with higher morbidity of epilepsy, mental retardation, autism, congenital heart disease, immune thrombocytopenia and other complications. KBGS is an autosomal dominant disease featuring more evident peculiar appearance and global development delay. Male patients often have multi-system involvement, and multidisciplinary cooperation is required for early recognition of particular features in order to improve the prognosis.


Subject(s)
Abnormalities, Multiple , Bone Diseases, Developmental , Child , Facies , Female , Humans , Intellectual Disability , Male , Phenotype , Repressor Proteins/genetics , Sex Characteristics , Tooth Abnormalities
2.
Article in English | WPRIM | ID: wpr-880678

ABSTRACT

Cardio-facio-cutaneous (CFC) syndrome is an extremely rare autosomal dominant genetic disease due to BRAF and other gene mutations. The main characteristics of the patients are craniofacial deformities, cardiac malformations, skin abnormalities, delay of language and motor development, gastrointestinal dysfunction, intellectual disability, and epilepsy. In this case, the child has a typical CFC syndrome face and developmental delay. The gene results of the second-generation sequencing technology showed that there was a mutation site c.1741A>G (p. Asn581Asp) (heterozygous) in exon 14 of the BRAF (NM_004333.5) gene. The mutation was not observed in the child's parents. The above-mentioned mutation may be a de novo mutation. There is no effective therapy for this disease so far.


Subject(s)
Abnormalities, Multiple , Child , Ectodermal Dysplasia/genetics , Facies , Failure to Thrive , Heart Defects, Congenital/genetics , Humans , Mutation , Proto-Oncogene Proteins B-raf/genetics
3.
Article in Chinese | WPRIM | ID: wpr-879626

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child suspected for Say-Barber-Biesecker-Young-Simpson syndrome.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the child and her parents. Whole exome sequencing was carried out for the proband. Suspected variants were validated by Sanger sequencing. The impact of the variants was predicted by bioinformatic analysis.@*RESULTS@#The child was found to harbor a de novo missense variant c.2623C>T (p.Asp875Tyr) in exon 13 of the KAT6B gene. The variant was previously unreported, and was not recorded in the major allele frequency database and predicted to be pathogenic based on PolyPhen-2, MutationTaster and PROVEAN analysis. As predicted by UCSF chimera and CASTp software, the variant can severely impact the substrate-binding pocket of histone acetyltransferase, resulting in loss of its enzymatic activity. Based on standards and guidelines by the American College of Medical Genetics and Genomics, the variant was classified to be likely pathogenic (PS2+PM2+PP3).@*CONCLUSION@#The child's condition may be attributed to the de novo missense c.2623C>T (p.Asp875Tyr) variant of the KAT6B gene.


Subject(s)
Blepharophimosis , Child , Congenital Hypothyroidism , Facies , Female , Heart Defects, Congenital , Histone Acetyltransferases/genetics , Humans , Intellectual Disability , Joint Instability , Mutation , Phenotype
4.
Article in Chinese | WPRIM | ID: wpr-879604

ABSTRACT

OBJECTIVE@#To summarize the clinical phenotype and genotype of a Chinese child affected with Mowat-Wilson syndrome (MWS).@*METHODS@#Clinical data of the patient were collected. The patient was analyzed by whole-exome sequencing (WES) as well as Sanger sequencing.@*RESULTS@#The patient was a male infant with recurrent fever and slow growth. He also had characteristic facies, recurrent spasm, and growth retardation. WES revealed that he has carried a heterozygous nonsense c.2609C>G (p.Ser870X) variant of the ZEB2 gene (30% mosaicism). Based on the American College of Medical Genetics and Genomics standards and guidelines, the variant was predicted to be pathogenic (PVS1+PS1+PS2+PM2).@*CONCLUSION@#The c.2609C>G variant of the ZEB2 gene probably underlay the MWS in this child. The mosaicism of the variant may explain his mild symptoms.


Subject(s)
Child , Facies , Hirschsprung Disease/genetics , Humans , Infant , Intellectual Disability/genetics , Male , Microcephaly/genetics , Mutation
5.
Braz. dent. j ; 31(5): 557-561, Sept.-Oct. 2020. graf
Article in English | LILACS, BBO | ID: biblio-1132330

ABSTRACT

Abstract Lesions denominated fibro-osseous lesions of the jaw constitute a diversified group of disorders, in which the normal bone architecture is replaced by fibroblasts, collagen fibers and immature bone. At present, the World Health Organization recognizes four variants of these lesions, namely: bone-cement dysplasia, fibrous dysplasia, ossifying fibroma and Familial gigantiform cementoma. Fibrous dysplasia may present in the monostotic form, affecting one single bone or an isolated craniofacial region; and in the Polyostotic form, involving two or more bones of the skeleton, and eventual association with syndromic conditions. The patient, C.P.G., 43 years old, sought attendance due to symptomatic increase in the region of the mandibular body on the right side. Imaging exams revealed craniofacial areas with ground-glass aspect, beyond the extensive mandibular radiolucent lesion. During the physical exam, spots of the Café au lait type disposed on the right side of the body were identified, in addition to uncoordinated gait with distinct shortening of the right leg. Additional radiographic exams showed evidence of skeletal dissemination of the disease. The patient denied any sexual precocity, and the final diagnosis was fibrous dysplasia, expressed by means of the Jaffe-Lichtenstein syndrome, in association with a simple bone cyst.


Resumo As denominadas lesões fibro-ósseas dos maxilares constituem um grupo diversificado de desordens nas quais a arquitetura óssea normal é substituída por fibroblastos, fibras colágenas e osso imaturo. Atualmente a Organização Mundial de Saúde reconhece quatro variantes destas lesões, sendo elas: a displasia cemento-óssea, a displasia fibrosa, o fibroma ossificante e cementoma gigantiforme familiar. A displasia fibrosa pode ser apresentar na forma monostótica, acometendo um único osso ou a região craniofacial isoladamente, e a forma poliostótica, envolvendo dois ou mais ossos do esqueleto, com eventual associação com condições sindrômicas. Paciente C.P.G., 43 anos, procurou atendimento devido aumento volumétrico sintomático na região de corpo mandibular do lado direito. Exames imaginológicos revelaram áreas craniofaciais com aspecto de vidro fosco ou despolido, além de extensa lesão radiolúcida mandibular. Durante o exame físico foram identificadas manchas do tipo café com leite dispostas do lado direito do corpo, além de marcha descoordenada com nítido encurtamento da perna direita. Novos exames radiográficos evidenciaram a disseminação esquelética da doença. O paciente negou qualquer precocidade sexual e o diagnóstico final foi de displasia fibrosa, expressa por meio da síndrome de Jaffe-Linchtenstein, em associação com um cisto ósseo simples.


Subject(s)
Humans , Adult , Bone Cysts , Cementoma , Jaw Neoplasms , Fibrous Dysplasia of Bone , Facies , Immunologic Deficiency Syndromes , Neutropenia
6.
Rev. bras. anestesiol ; 70(3): 299-301, May-June 2020. graf
Article in English, Portuguese | LILACS | ID: biblio-1137176

ABSTRACT

Abstract Crisponi syndrome is a rare and severe heritable disorder characterised by muscle contractions, trismus, apnea, feeding troubles, and unexplained high fever spikes with multiple organ failure. Here we report perioperative care for endoscopic gastrostomy of a 17 month-old female child with Crisponi syndrome. Temperature in the surgery room was strictly monitored and maintained at 19ºC. The patient was exposed to both inhaled and intravenous anesthetic agents. Surgical and perioperative periods were uneventful. Episodes of fever in Crisponi syndrome arise from CRLF1 mutation, which differs from the physiological pathway underlying malignant hyperthermia.


Resumo A Síndrome de Crisponi é uma condição clínica hereditária grave e rara caracterizada por contrações musculares, trismo, apneia, distúrbios na alimentação, picos de febre alta e inexplicável, e falência de múltiplos órgãos. Descrevemos o cuidado perioperatório de paciente pediátrica com 17 meses de idade, portadora da Síndrome de Crisponi, submetida a gastrostomia endoscópica. A temperatura da sala de cirurgia foi cuidadosamente monitorizada e mantida a 19ºC. A paciente foi submetida a agentes anestésicos inalatórios e venosos. O cuidado cirúrgico e perioperatório desenvolveram-se sem incidentes. As crises de febre na Síndrome de Crisponi originam-se de mutação no gene CRLF1, o que as diferenciam do mecanismo fisiopatológico da hipertermia maligna.


Subject(s)
Humans , Female , Infant , Trismus/congenital , Hand Deformities, Congenital , Gastrostomy , Facies , Death, Sudden , Hyperhidrosis , Anesthesia, General
7.
Article in Chinese | WPRIM | ID: wpr-826555

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child featuring delayed intellectual development.@*METHODS@#The child and his parents were subjected to conventional G-banding karyotyping and single nucleotide polymorphism array (SNP-array) analysis. Suspected copy number variations (CNVs) were verified in both parents.@*RESULTS@#No karyotypic abnormality was found with the child and his parents. SNP-array results for both parents were normal. The child was found to harbor a de novo 172 kb deletion at 18q21.2 with a physical position of 52 957 042-53 129 237. The deletion only involved one OMIM gene, namely TCF4, resulting in removal of its exons 6 to 8.@*CONCLUSION@#The SNP-array assay has facilitated with the diagnosis of this child. Deletion of 18q21.2 region probably accounts for the Pitt-Hopkins syndrome (PTHS) in this patient.


Subject(s)
Child , Chromosome Deletion , Chromosomes, Human, Pair 18 , Genetics , DNA Copy Number Variations , Developmental Disabilities , Genetics , Facies , Humans , Hyperventilation , Genetics , Intellectual Disability , Genetics , Phenotype , Transcription Factor 4 , Genetics
8.
Article in Chinese | WPRIM | ID: wpr-826538

ABSTRACT

OBJECTIVE@#To explore the genetic basis of a proband with distinctive facial features, global developmental delay, seizures and hypoplasia of corpus callosum through next generation sequencing (NGS).@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the proband and his family members. Whole exome and flanking sequences were screened by NGS. Suspected variants were verified by Sanger sequencing.@*RESULTS@#The proband was found to carry a heterozygous c.2824G>T (p.G942X) variant of the ZEB2 gene, which was verified by Sanger sequencing to be a de novo variant.@*CONCLUSION@#The heterozygous c.2824G>T (p.G942X) variant of the ZEB2 gene probably underlies the Mowat-Wilson syndrome in the proband.


Subject(s)
Facies , Genetic Variation , Heterozygote , Hirschsprung Disease , Genetics , Humans , Intellectual Disability , Genetics , Microcephaly , Genetics , Whole Exome Sequencing , Zinc Finger E-box Binding Homeobox 2 , Genetics
9.
Article in Chinese | WPRIM | ID: wpr-826531

ABSTRACT

OBJECTIVE@#To explore the genotype-phenotype correlation of Cardio-facio-cutaneous syndrome (CFCS) caused by MAP2K1 gene variants.@*METHODS@#Genomic DNA was extracted from peripheral blood sample from a child patient and his parents. Whole exome sequencing (WES) was carried out for the patient. Suspected variant was verified by Sanger sequencing.@*RESULTS@#The patient was a 1-year-8-month old Chinese male who manifested short stature, psychomotor retardation, relative macrocephaly, distinctive facial features, and congenital heart disease. WES test revealed a heterozygous missense c.389A>G (p.Tyr130Cys) variant in the MAP2K1 gene. Sanger sequencing has confirmed the variant as de novo. According to ACMG/AMP guidelines, the variant was classified as pathogenic.@*CONCLUSION@#Compared with previously reported CFCS cases due to MAP2K1 variants. The patient showed obvious behavioral problems, good appetite and tricuspid regurgitation, which may to be novel features for CFCS.


Subject(s)
China , Ectodermal Dysplasia , Genetics , Facies , Failure to Thrive , Genetics , Genetic Association Studies , Genetic Variation , Heart Defects, Congenital , Genetics , Heterozygote , Humans , Infant , MAP Kinase Kinase 1 , Genetics , Male , Mutation , Whole Exome Sequencing
10.
Article in Chinese | WPRIM | ID: wpr-879479

ABSTRACT

OBJECTIVE@#To explore the genetic basis of a patient presenting with dysmorphism, intellectual disability, psychomotor delay and hypoplasia of corpus callosum by using next generation sequencing.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the patient and his family members and subjected to exome sequencing. Suspected variants were verified with Sanger sequencing.@*RESULTS@#The patient was found to carry a heterozygous c.1357delAinsGGA variant in exon 11 of the TCF4 gene, which was verified as de novo by Sanger sequencing. The variant may result in a truncated protein and affect its function.@*CONCLUSION@#The heterozygous c.1357delAinsGGA variant the TCF4 gene probably underlies the disease in the proband.


Subject(s)
Facies , Genetic Testing , Humans , Hyperventilation/genetics , Intellectual Disability/genetics , Male , Transcription Factor 4/genetics
11.
Med. UIS ; 32(2): 59-65, mayo-ago. 2019. tab, graf
Article in Spanish | LILACS | ID: biblio-1114969

ABSTRACT

Resumen El síndrome 3M es un desorden autosómico recesivo, heterogéneo, poco común, llamado así por los tres investigadores que lo describieron por primera vez, Miller, Mckusck y Malvaux. Las características principales son retraso en el crecimiento prenatal y postnatal severo, dismorfias faciales y anomalías radiológicas. En sus manifestaciones estomatológicas presentan dolicocefalia, abombamiento frontal, cara triangular, labios gruesos, cejas pobladas, hipoplasia maxilar severa, facies melancólicas, retraso en la erupción dental severa y falta de crecimiento del macizo facial. El objetivo del artículo es la descripción de casos gemelares de 8 años y 6 meses de edad, que acuden a la Clínica de Atención Dental Avanzada de la Universidad de Monterrey, con confirmación del síndrome 3M por prueba sanguínea a los 4 años de edad por parte del Servicio de Genética del Hospital Universitario. Se realiza rehabilitación bucal de ambas niñas, y, posteriormente, son referidas a interconsulta con ortodoncia interceptiva. MÉD.UIS.2019;32(2): 59-65


Abstract 3M syndrome is very rare, it's a heterogeneous autosomal recessive disorder named after 3 researches who described it for the first time, Miller, Mckusck and Malvaux. Whose main characteristic are; delayed prenatal growth, severe postnatal growth, facial dysmorphia, radiological abnormalities, presence of dolichocephaly, frontal bulging, triangular face, thick lips, raised eyebrows, severe maxillary hypoplasia, melancholic facies, delayed severe dental eruption, lack of facial mass growth. The objective of the article is the description of twin cases that come to the Advanced Dental Care Clinic of the University of Monterrey; 8 years 6 months old, with confirmation of the 3M syndrome, with a blood test at 4 years of age by the Genetics Service of the University Hospital. MÉD.UIS.2019;32(2): 59-65


Subject(s)
Humans , Female , Child , Syndrome , Dwarfism , Orthodontics, Interceptive , Tooth Eruption , Twins , Women , Dental Care , Facies , Eyebrows , Face , Genes , Genetics , Growth , Hematologic Tests , Lip , Maxilla , Mouth Rehabilitation
12.
Article in Chinese | WPRIM | ID: wpr-781320

ABSTRACT

OBJECTIVE@#To explore the molecular basisfor a child featuring short stature, abnormal facial features and developmental delay.@*METHODS@#Genomic DNA was extracted from peripheral blood samples from the child and his family members. Next-generation sequencing was carried out to screen the whole exomes of the core family. Detected variants were filtered and analyzed according to the standards and guidelines for the interpretation of sequence variants recommended by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.@*RESULTS@#Trio-based sequencing has identified a de novo variant c.3593T>G (p.Val1198Gly) in the SMARCA2 gene in the patient. The variant was located in the Helicase C-terminal domain and was classified as pathogenic based on the guidelines.@*CONCLUSION@#The patient was diagnosed with Nicolaides-Baraitser syndrome caused by SMARCA2 gene mutation.


Subject(s)
Child , Facies , Foot Deformities, Congenital , Genetics , Humans , Hypotrichosis , Genetics , Intellectual Disability , Genetics , Mutation , Transcription Factors , Genetics
13.
Article in Chinese | WPRIM | ID: wpr-781316

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a fetus featuring increased nuchal thickness.@*METHODS@#Routine G-banding karyotyping and single nucleotide polymrophism array were carried out to detect genomic copy number variations (CNVs) in the fetus.@*RESULTS@#The fetus was found to harbor a heterozygous 3.8 Mb deletion in the 2q22.2-q22.3 region encompassing the ZEB2 gene, which is closely associated with Mowat-Wilson syndrome (MWS).@*CONCLUSION@#Haploinsufficiency of the ZEB2 gene may predispose to MWS. Lack of knowledge regarding to the ultrasonographic features of MWS may lead to misdiagnosis of the syndrome.


Subject(s)
DNA Copy Number Variations , Facies , Female , Fetus , Hirschsprung Disease , Diagnosis , Genetics , Humans , Intellectual Disability , Diagnosis , Genetics , Microcephaly , Diagnosis , Genetics , Pregnancy , Prenatal Diagnosis , Sequence Deletion , Zinc Finger E-box Binding Homeobox 2 , Genetics
14.
Article in English | WPRIM | ID: wpr-762777

ABSTRACT

Congenital hypoplasia of the depressor anguli oris muscle is a rare cause of asymmetrical crying facies in newborns. The clinical manifestations range from mild to severe asymmetry and may persist up to adulthood. In the current case, the patient did not exhibit other congenital anomalies or paralysis of other branches of the facial nerve. This adult patient presented with severe asymmetrical lower lip deformity during full mouth opening since birth. A chromosomal study for the detection of 22q gene deletion yielded negative results. The electromyography findings of the lower lip were insignificant. Depressor labii inferioris muscle resection was not effective, but bidirectional (horizontal and vertical) fascia lata grafting improved the aesthetic appearance of the asymmetrical lower lip. The patient showed improved lower lip symmetry during full mouth opening at 1 year after the surgery. Therefore, the details of this rare case are reported herein.


Subject(s)
Adult , Congenital Abnormalities , Crying , Electromyography , Facial Nerve , Facies , Fascia Lata , Gene Deletion , Humans , Infant, Newborn , Lip , Mouth , Paralysis , Parturition , Transplants
15.
Article in English | WPRIM | ID: wpr-764510

ABSTRACT

SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syndrome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly referred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental disability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with findings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Although there is no specific treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.


Subject(s)
Chin , Cleft Palate , Cryptorchidism , Depression , Facies , Fetal Growth Retardation , Foot Deformities , Frontal Bone , Hand , Hearing Loss , Hernia, Inguinal , Humans , Insulin Resistance , Joints , Lipodystrophy , Male , Micrognathism , Parturition , Skin , Skull , Specialization , Tooth , Tooth Eruption
16.
Article in Chinese | WPRIM | ID: wpr-776819

ABSTRACT

OBJECTIVE@#To analyze the clinical and molecular genetics features of a family affected with Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS).@*METHODS@#High-throughput sequencing was used to detect copy number variations (CNVs) and pathogenic variant within the whole exome of the affected child.@*RESULTS@#No pathogenic CNV was found in the child, while exome sequencing identified a heterozygous c.3367_c.3370delAGAA (p.Arg1123Argfs*6) frameshifting variant in the exon 16 of the KAT6B gene. The same variant was not found in either parent.@*CONCLUSION@#The c.3367_c.3370delAGAA (p.R1123Rfs*6) probably underlies the disease in the affected child. Above finding has facilitated genetic counseling and prenatal diagnosis for the family.


Subject(s)
Blepharophimosis , Genetics , Child , Congenital Hypothyroidism , Genetics , DNA Copy Number Variations , Facies , Female , Heart Defects, Congenital , Genetics , Histone Acetyltransferases , Genetics , Humans , Intellectual Disability , Genetics , Joint Instability , Genetics , Mutation , Phenotype , Pregnancy
17.
Article in Chinese | WPRIM | ID: wpr-774050

ABSTRACT

Mowat-Wilson syndrome (MWS) is a rare autosomal dominant genetic disease caused by zinc finger E-box-binding homeobox 2 (ZEB2) gene mutation and has various clinical manifestations including intellectual disability/global developmental delay, unusual facies and multiple congenital malformations. This article reports the clinical features and gene mutations of three children diagnosed with MWS by ZEB2 gene analysis. All three children had Hirschsprung disease and unusual facies. One child died of severe heart failure and pneumonia at the age of 4 months. Global developmental delay was not discovered by her parents due to her young age. The other two children had severe global developmental delay. All three children carried a de novo heterozygous nonsense mutation in the ZEB2 gene, among which c.756C>A (p.Y252X) had not been reported before. Such mutations produced truncated proteins and were highly pathogenic. MWS is presented with strong clinical and genetic heterogeneity. Clinicians should consider the possibility of MWS when a child has unusual facies of MWS, intellectual disability/global developmental delay and multiple congenital malformations. Gene detection helps to make a confirmed diagnosis.


Subject(s)
Facies , Female , Hirschsprung Disease , Homeodomain Proteins , Humans , Intellectual Disability , Microcephaly , Repressor Proteins
18.
Article in Chinese | WPRIM | ID: wpr-776668

ABSTRACT

A girl, aged 1 year and 9 months, was found to have hypertriglyceridemia in the neonatal period, with unusual facies and signs of dark skin all over the body, disappearance of subcutaneous adipose, acanthosis nigricans of the neck, excessive and thick hair, empty cheeks, muscle hypertrophy of the extremities, hepatomegaly, and neutrophil deficiency. Whole exome sequencing of monogenic disorder revealed a homozygote mutation in the BSCL2 gene, c.974 (exon 7)_c.975 (exon 7) insG. Her parents were heterozygotes for this locus. The girl was diagnosed with congenital generalized lipodystrophy (CGL), but the association between CGL and neutrophil deficiency remained unclear. Triglyceride was maintained at a normal level after the treatment with a low-fat and high-carbohydrate diet, and there were no obvious changes in signs. CGL is a rare autosomal recessive systemic disease manifested as disappearance of systemic subcutaneous adipose, muscle hypertrophy of the extremities, and metabolic disorders in the neonatal period, such as high triglycerides, hyperinsulinemia, and hyperglycemia. About 95% of CGL cases are caused by mutations in the AGPAT2 or BSCL2 gene.


Subject(s)
Facies , Female , GTP-Binding Protein gamma Subunits , Humans , Hypertriglyceridemia , Infant , Lipodystrophy, Congenital Generalized
19.
Article in English | WPRIM | ID: wpr-219268

ABSTRACT

Alagille syndrome (AGS) is a complex multisystem disorder that involves mainly the liver, heart, eyes, face, and skeleton. The main associated clinical features are chronic cholestasis due to a paucity of intrahepatic bile ducts, congenital heart disease primarily affecting pulmonary arteries, vertebral abnormalities, ocular embryotoxon, and peculiar facies. The manifestations generally become evident at a pediatric age. AGS is caused by defects in the Notch signaling pathway due to mutations in JAG1 or NOTCH2. It is inherited in an autosomal dominant pattern with a high degree of penetrance, but variable expressivity results in a wide range of clinical features. Here we report on a 31-year-old male patient who presented with elevated serum alkaline phosphatase and gamma-glutamyl transpeptidase, and was diagnosed with AGS associated with the JAG1 mutation after a comprehensive workup.


Subject(s)
Adult , Alagille Syndrome , Alkaline Phosphatase , Bile Ducts, Intrahepatic , Cholestasis , Facies , gamma-Glutamyltransferase , Heart , Heart Defects, Congenital , Humans , Liver , Male , Penetrance , Pulmonary Artery , Skeleton
20.
Rev. cuba. inform. méd ; 8(1)ene.-jun. 2016.
Article in Spanish | LILACS, CUMED | ID: lil-785010

ABSTRACT

El procesamiento de imágenes digitales y la visión por computador son ampliamente utilizados en medicina actualmente y son de gran interés las propuestas de nuevos métodos de análisis automatizado de imágenes digitales o mejorar la eficiencia de los existentes. En este trabajo se desarrollaron métodos nuevos para estudiar computacionalmente a través de imágenes de muestras de sangre la drepanocitosis, dolencia con alta incidencia mundial y en Cuba, sobre todo en la región oriental. Se propusieron nuevos métodos de análisis de formas, obtenidos a partir de resultados clásicos de geometría integral y nuevas propuestas de visión por computador para evaluar trastornos neurofisiológicos asociados a través del estudio de las expresiones faciales del paciente. La validación estadística realizada comprobó la superioridad de estos métodos sobre otros, se determinó que son válidos para ser introducidos en software de apoyo para mejorar la calidad de la atención médica(AU)


Digital image processing and computer vision are frequently used in medicine at present and the proposals of new methods of automatic analysis of digital images or the efficiency improvement of the existing are of great interest. In this work new methods to computationally study sickle cell disease through blood samples images are developed, an illness with high incidence in the world and in Cuba, mainly in the eastern region. New shape analysis methods obtained from classical results of integral geometry and new computer vision proposals for evaluate neuro physiological disorders associated with this illness through the study of the facial expressions of the patient were proposed. The statistical validation realized confirmed the superiority of these methods on previous proposals, which is why they are valid to be introduced in support software to improve the quality of the medical attention(AU)


Subject(s)
Humans , Facies , Cuba , Anemia, Sickle Cell
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