All cases had typical radiographic findings of SPENCD with short stature. Cases 2 and 3, 8 and 9,... more All cases had typical radiographic findings of SPENCD with short stature. Cases 2 and 3, 8 and 9, and 13 and 14, were sib couples. Annotation of mutations refers to ACP5 cDNA (ENST00000218758), numbering (nucleotide c.1) starts with the A of the ATG translation initiation codon. ANA, antinuclear antibodies; SLE, systemic lupus erythematosus.
To compare impulsivity and compulsivity, we performed a case control study comparing a group of 2... more To compare impulsivity and compulsivity, we performed a case control study comparing a group of 20 patients with obsessive-compulsive disorder with a group of 20 patients with skin picking and/or trichotillomania (SP/T). The instruments used were Structured Clinical Interview for DSM-IV Axis I Diagnosis, Yale-Brown Obsessive-Compulsive Scale, Schalling Impulsivity Scale, and Hamilton Anxiety and Depression Inventories. A Multidimensional Impulsive-Compulsive Spectrum Assessment Instrument was designed for this particular study. The Yale-Brown Obsessive-Compulsive Scale scores were significantly higher in patients with obsessive-compulsive disorder, compared with patients with SP/T (F = 90.29; P < .001). The Hamilton Inventories and Schalling Impulsivity Scale revealed no significant intergroup differences. The Multidimensional Impulsive-Compulsive Spectrum Assessment Instrument allowed us to find 6 statistically significant differences between groups: the ability or inability to delay an impulse, quick response or action planning, feelings of pleasure or guilt during or after an act, ritualization, and whether the patient believes he/she has losses or benefits if prevented from acting. In conclusion, SP/T should deserve further attention about their classification in future versions of diagnostic manuals because, as in International Classification of Diseases, Tenth Revision, the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition includes these disorders in the same chapter as pathological gambling, kleptomania, pyromania and others. Despite their resemblance to compulsions, their classification under the Obsessive-Compulsive Spectrum needs particular phenomenological and neurobiologic investigation.
American journal of medical genetics. Part A, Jan 31, 2017
Delta phalanx is a rare abnormality typically associated with additional features. We describe a ... more Delta phalanx is a rare abnormality typically associated with additional features. We describe a patient with a phenotype resembling Catel-Manzke syndrome, but with delta phalanx and abnormal vertebrae and ribs. The patient was the only child of half siblings born with a marked prenatal growth deficiency. At 10 years of age, she had a short stature, long face, long and tubular nose with small alae nasi, high palate, short and broad thorax, and short index fingers with radial deviation. There were hyperpigmentations following Blaschko's lines. Radiology showed a proximal delta phalanx in the index finger of hands, abnormal vertebrae, and fused and small ribs. GTG-Banding karyotype and microarray analysis yielded normal results. Exome sequencing identified 25 genes that harbored homozygous variants, but none of these is assumed to be a good candidate to explain (part of) the phenotype. The here described patient may have a new condition, possibly following an autosomal recessive p...
Current knowledge on dental anomalies in patients with incontinentia pigmenti (IP) has been obtai... more Current knowledge on dental anomalies in patients with incontinentia pigmenti (IP) has been obtained by examining case reports; however, an overall characterization of such alterations remains lacking. The objective of this study was to determine the frequency, type and location of dental alterations in IP using a case series. Fourteen patients (9 children and 5 adults) with a clinical diagnosis of IP who presented dental anomalies were included in this study. All patients were administered a clinical questionnaire, dental examination and radiological investigation. In the present case series, agenesis of primary dentition was present in 60 % of patients and agenesis of permanent tooth was present in 92.8 % of patients. Most cases were missing at least 6 teeth. Second molar agenesis was present in 13 patients (92.8 %). Anomalies in dental crowns occurred in 71.4 % of cases, and the central incisor was most frequently affected. Two adult patients still had primary teeth. Malocclusion was found in 10 patients (71.4 %). High-arched palate was observed in 7 (50 %) patients. Patients with IP present alterations in both primary and permanent dentition. Because the agenesis of permanent teeth is more common, primary teeth are not always replaced. In addition, the durability of primary dentition appears to be greater in IP. This study shows that patients with IP experience significant loss of teeth, especially in permanent dentition, and have an increased risk of high-arched palate compared to the general population. Prophylactic care of primary teeth in IP is relevant for improving functional and aesthetic outcomes until dental prostheses are implanted.
American journal of medical genetics. Part A, Jan 24, 2016
Oculoauriculovertebral spectrum (OAVS), also known as Goldenhar syndrome, is considered a conditi... more Oculoauriculovertebral spectrum (OAVS), also known as Goldenhar syndrome, is considered a condition associated to failing of embryogenesis involving the first and second branchial arches, leading to structural abnormalities arising from it. The aim of this study is to verify the hearing features presented by patients with OAVS and provide additional information that may contribute to improvement of speech therapy. The sample consisted of 10 individuals diagnosed with OAVS and cared for by the Clinical Genetics Service. All patients underwent objective assessment of auditory function through tonal and vocal audiometry. This evaluation was completed using TOAE and BERA. The patient's age ranged from 1 year and 9 months to 27 years and 4 months. At physical examination it was found that 10 had microtia, 7 preauricular tags, 6 low-set ears, 6 ear canal atresia, and 2 preauricular pits. Among the patients, five presented with abnormal hearing. Three patients had conductive hearing lo...
Objetivo: Relatar dois pacientes com a síndrome de Emanuel (SE) ou cromossomo supernumerário der(... more Objetivo: Relatar dois pacientes com a síndrome de Emanuel (SE) ou cromossomo supernumerário der(22) t(11;22), secundária a translocações balanceadas familiares, apresentando fenótipos distintos.
Objective: To verify clinical characteristics and cytogenetic findings of patients suspects of ha... more Objective: To verify clinical characteristics and cytogenetic findings of patients suspects of having mosaicism and submitted to chromosomal analysis of lymphocytes and fibroblasts through GTG-Banding karyotype.
A gestante apresentava 31 anos e estava em sua segunda gravidez. Ela veio encaminhada devido a ul... more A gestante apresentava 31 anos e estava em sua segunda gravidez. Ela veio encaminhada devido a ultrassom fetal com achados sugestivos de osteogênese imperfeita. A ultrassonografia morfológica realizada em nosso serviço, com 20 semanas de gravidez, mostrou feto com encurtamento e encurvamento dos fêmures, encurtamento dos úmeros com suspeita de fratura à esquerda, curvatura dos ossos da perna esquerda e curvatura dos ossos do antebraço direito. O crânio parecia ser pouco mineralizado (figura 1).
All cases had typical radiographic findings of SPENCD with short stature. Cases 2 and 3, 8 and 9,... more All cases had typical radiographic findings of SPENCD with short stature. Cases 2 and 3, 8 and 9, and 13 and 14, were sib couples. Annotation of mutations refers to ACP5 cDNA (ENST00000218758), numbering (nucleotide c.1) starts with the A of the ATG translation initiation codon. ANA, antinuclear antibodies; SLE, systemic lupus erythematosus.
To compare impulsivity and compulsivity, we performed a case control study comparing a group of 2... more To compare impulsivity and compulsivity, we performed a case control study comparing a group of 20 patients with obsessive-compulsive disorder with a group of 20 patients with skin picking and/or trichotillomania (SP/T). The instruments used were Structured Clinical Interview for DSM-IV Axis I Diagnosis, Yale-Brown Obsessive-Compulsive Scale, Schalling Impulsivity Scale, and Hamilton Anxiety and Depression Inventories. A Multidimensional Impulsive-Compulsive Spectrum Assessment Instrument was designed for this particular study. The Yale-Brown Obsessive-Compulsive Scale scores were significantly higher in patients with obsessive-compulsive disorder, compared with patients with SP/T (F = 90.29; P < .001). The Hamilton Inventories and Schalling Impulsivity Scale revealed no significant intergroup differences. The Multidimensional Impulsive-Compulsive Spectrum Assessment Instrument allowed us to find 6 statistically significant differences between groups: the ability or inability to delay an impulse, quick response or action planning, feelings of pleasure or guilt during or after an act, ritualization, and whether the patient believes he/she has losses or benefits if prevented from acting. In conclusion, SP/T should deserve further attention about their classification in future versions of diagnostic manuals because, as in International Classification of Diseases, Tenth Revision, the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition includes these disorders in the same chapter as pathological gambling, kleptomania, pyromania and others. Despite their resemblance to compulsions, their classification under the Obsessive-Compulsive Spectrum needs particular phenomenological and neurobiologic investigation.
American journal of medical genetics. Part A, Jan 31, 2017
Delta phalanx is a rare abnormality typically associated with additional features. We describe a ... more Delta phalanx is a rare abnormality typically associated with additional features. We describe a patient with a phenotype resembling Catel-Manzke syndrome, but with delta phalanx and abnormal vertebrae and ribs. The patient was the only child of half siblings born with a marked prenatal growth deficiency. At 10 years of age, she had a short stature, long face, long and tubular nose with small alae nasi, high palate, short and broad thorax, and short index fingers with radial deviation. There were hyperpigmentations following Blaschko's lines. Radiology showed a proximal delta phalanx in the index finger of hands, abnormal vertebrae, and fused and small ribs. GTG-Banding karyotype and microarray analysis yielded normal results. Exome sequencing identified 25 genes that harbored homozygous variants, but none of these is assumed to be a good candidate to explain (part of) the phenotype. The here described patient may have a new condition, possibly following an autosomal recessive p...
Current knowledge on dental anomalies in patients with incontinentia pigmenti (IP) has been obtai... more Current knowledge on dental anomalies in patients with incontinentia pigmenti (IP) has been obtained by examining case reports; however, an overall characterization of such alterations remains lacking. The objective of this study was to determine the frequency, type and location of dental alterations in IP using a case series. Fourteen patients (9 children and 5 adults) with a clinical diagnosis of IP who presented dental anomalies were included in this study. All patients were administered a clinical questionnaire, dental examination and radiological investigation. In the present case series, agenesis of primary dentition was present in 60 % of patients and agenesis of permanent tooth was present in 92.8 % of patients. Most cases were missing at least 6 teeth. Second molar agenesis was present in 13 patients (92.8 %). Anomalies in dental crowns occurred in 71.4 % of cases, and the central incisor was most frequently affected. Two adult patients still had primary teeth. Malocclusion was found in 10 patients (71.4 %). High-arched palate was observed in 7 (50 %) patients. Patients with IP present alterations in both primary and permanent dentition. Because the agenesis of permanent teeth is more common, primary teeth are not always replaced. In addition, the durability of primary dentition appears to be greater in IP. This study shows that patients with IP experience significant loss of teeth, especially in permanent dentition, and have an increased risk of high-arched palate compared to the general population. Prophylactic care of primary teeth in IP is relevant for improving functional and aesthetic outcomes until dental prostheses are implanted.
American journal of medical genetics. Part A, Jan 24, 2016
Oculoauriculovertebral spectrum (OAVS), also known as Goldenhar syndrome, is considered a conditi... more Oculoauriculovertebral spectrum (OAVS), also known as Goldenhar syndrome, is considered a condition associated to failing of embryogenesis involving the first and second branchial arches, leading to structural abnormalities arising from it. The aim of this study is to verify the hearing features presented by patients with OAVS and provide additional information that may contribute to improvement of speech therapy. The sample consisted of 10 individuals diagnosed with OAVS and cared for by the Clinical Genetics Service. All patients underwent objective assessment of auditory function through tonal and vocal audiometry. This evaluation was completed using TOAE and BERA. The patient's age ranged from 1 year and 9 months to 27 years and 4 months. At physical examination it was found that 10 had microtia, 7 preauricular tags, 6 low-set ears, 6 ear canal atresia, and 2 preauricular pits. Among the patients, five presented with abnormal hearing. Three patients had conductive hearing lo...
Objetivo: Relatar dois pacientes com a síndrome de Emanuel (SE) ou cromossomo supernumerário der(... more Objetivo: Relatar dois pacientes com a síndrome de Emanuel (SE) ou cromossomo supernumerário der(22) t(11;22), secundária a translocações balanceadas familiares, apresentando fenótipos distintos.
Objective: To verify clinical characteristics and cytogenetic findings of patients suspects of ha... more Objective: To verify clinical characteristics and cytogenetic findings of patients suspects of having mosaicism and submitted to chromosomal analysis of lymphocytes and fibroblasts through GTG-Banding karyotype.
A gestante apresentava 31 anos e estava em sua segunda gravidez. Ela veio encaminhada devido a ul... more A gestante apresentava 31 anos e estava em sua segunda gravidez. Ela veio encaminhada devido a ultrassom fetal com achados sugestivos de osteogênese imperfeita. A ultrassonografia morfológica realizada em nosso serviço, com 20 semanas de gravidez, mostrou feto com encurtamento e encurvamento dos fêmures, encurtamento dos úmeros com suspeita de fratura à esquerda, curvatura dos ossos da perna esquerda e curvatura dos ossos do antebraço direito. O crânio parecia ser pouco mineralizado (figura 1).
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