RESUMEN
OBJECTIVES: 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion syndrome and has a multisystemic presentation including gastrointestinal features that have not yet been fully described. Our aim was to examine lifetime gastrointestinal problems in a large cohort of patients with 22q11.2DS. METHODS: All patients followed in the 22q and You Center at the Children's Hospital of Philadelphia (n = 1421) were retrospectively screened for: 1) age ≥ 17 years, 2) documented chromosomal microdeletion within the 22q11.2 LCR22A-LCR22D region, and 3) sufficient clinical data to characterize the adult gastrointestinal phenotype. Gastrointestinal problems in childhood, adolescence, and adulthood were summarized. Statistical association testing of symptoms against other patient characteristics was performed. RESULTS: Included patients (n = 206; 46% female; mean age, 27 years; median follow-up, 21 years) had similar clinical characteristics to the overall cohort. Genetic distribution was also similar, with 96% having deletions including the critical LCR22A-LCR22B segment (95% in the overall cohort). Most patients experienced chronic gastrointestinal symptoms in their lifetime (91%), but congenital gastrointestinal malformations (3.5%) and gastrointestinal autoimmune diseases (1.5%) were uncommon. Chronic symptoms without anatomic or pathologic abnormalities represented the vast burden of illness. Chronic symptoms in adulthood are associated with other chronic gastrointestinal symptoms and psychiatric comorbidities ( P < 0.01) but not with deletion size or physiologic comorbidities ( P > 0.05). One exception was increased nausea/vomiting in hypothyroidism ( P = 0.002). CONCLUSIONS: Functional gastrointestinal disorders (FGIDs) are a common cause of ill health in children and adults with 22q11.2DS. Providers should consider screening for the deletion in patients presenting with FGIDs and associated comorbidities such as neuropsychiatric illness, congenital heart disease, and palatal abnormalities.
Asunto(s)
Síndrome de DiGeorge , Enfermedades Gastrointestinales , Cardiopatías Congénitas , Comorbilidad , Síndrome de DiGeorge/complicaciones , Síndrome de DiGeorge/genética , Femenino , Enfermedades Gastrointestinales/complicaciones , Enfermedades Gastrointestinales/genética , Humanos , Masculino , Fenotipo , Estudios RetrospectivosRESUMEN
OBJECTIVE: To predict incident bloodstream infection and urinary tract infection (UTI) in infants with congenital diaphragmatic hernia (CDH). STUDY DESIGN: We conducted a retrospective analysis using the Children's Hospital Neonatal Database during 2010-2016. Infants with CDH admitted at 22 participating regional neonatal intensive care units were included; patients repaired or discharged to home prior to admission/referral were excluded. The primary outcome was death or the occurrence of bloodstream infection or UTI prior to discharge. Factors associated with this outcome were used to develop a multivariable equation using 80% of the cohort. Validation was performed in the remaining 20% of infants. RESULTS: Median gestation and postnatal age at referral in this cohort (n = 1085) were 38 weeks and 3.1 hours, respectively. The primary outcome occurred in 395 patients (36%); and was associated with low birth weight, low Apgar, low admission pH, renal and associated anomalies, patch repair, and extracorporeal membrane oxygenation (P < .001 for all; area under receiver operating curve = 0.824; goodness of fit χ2 = 0.52). After omitting death from the outcome measure, admission pH, patch repair of CDH, and duration of central line placement were significantly associated with incident bloodstream infection or UTI. CONCLUSIONS: Infants with CDH are at high risk of infection which was predicted by clinical factors. Early identification and low threshold for sepsis evaluations in high-risk infants may attenuate acquisition and the consequences of these infections.
Asunto(s)
Bacteriemia/epidemiología , Hernias Diafragmáticas Congénitas/epidemiología , Infecciones Urinarias/epidemiología , Antibacterianos/uso terapéutico , Puntaje de Apgar , Cateterismo Venoso Central/estadística & datos numéricos , Anomalías Congénitas , Bases de Datos Factuales , Utilización de Medicamentos , Oxigenación por Membrana Extracorpórea , Hernias Diafragmáticas Congénitas/cirugía , Humanos , Concentración de Iones de Hidrógeno , Recién Nacido de Bajo Peso , Recién Nacido , Unidades de Cuidado Intensivo Neonatal , Riñón/anomalías , Estudios Retrospectivos , Medición de Riesgo , Mallas Quirúrgicas , Estados Unidos/epidemiologíaRESUMEN
The generic classification of millipede associated Heterozerconidae in the Oriental region is revised. The genus Allozercon Vitzthum is re-diagnosed and Asioheterozercon Fain is designated as an subjective junior synonym of Allozercon. Philippinozercon gen. nov., with the type species P. makilingensis sp. nov., is described for all instars. This genus may be endemic for the Philippines, but is quite widespread in that country. All immature instars are described, making this the second species of Heterozerconidae known for all instars. The morphology of the immatures is compared with that of immatures of the temperate species Narceoheterozercon ohioensis and unnamed species from Brazil and Thailand. All immatures were collected from millipede frass and litter, never from millipedes. Adults are associated with millipedes in the family Trigoniulidae (Spirobolida).
Asunto(s)
Artrópodos , Ácaros , Animales , Brasil , Filipinas , TailandiaRESUMEN
OBJECTIVE: 22q11.2 Deletion Syndrome (22q11.2DS) is associated with increased risk for schizophrenia in adulthood while Attention Deficit Hyperactivity Disorder (ADHD) is the most prevalent diagnosis in childhood. Inattention symptoms are pronounced in 22q11.2DS and given that attentional impairment is a core feature of schizophrenia, inattention symptoms may reflect underlying ADHD, psychosis, or both. We investigate whether inattention is associated with psychosis in 22q11.2DS and in other groups at risk for psychosis but without the deletion (ND) (idiopathic clinical risk and first degree family members of individuals with schizophrenia). METHODS: One hundred thirty-seven individuals with 22q11.2DS (mean age: 14.0), 84 ND individuals with subthreshold psychosis (mean age: 16.9) and 31 ND individuals with family history of psychosis (mean age: 17.0) were included in the study. Psychopathology was assessed using research diagnostic assessments. RESULTS: ADHD total symptoms were associated with overall levels of subthreshold psychosis symptoms in 22q11.2DS (ß = .8, P = .04). Inattention symptoms were specifically associated with positive (ß = .5, P = .004), negative (ß = .5, P = .03), and disorganized (ß = .5, P < .001) symptoms, while hyperactivity-impulsivity symptoms were associated with disorganized symptoms (ß = .5, P = .01). The prevalence of ADHD inattention symptoms was higher in 22q11.2DS with subthreshold psychosis compared to ND individuals with subthreshold psychosis (P < .001), even when adjusting for cognitive impairment and overall psychopathology. The pattern was similar when comparing individuals with 22q11.2DS and ND individuals with family history of psychosis. CONCLUSIONS: This is the first study to examine the associations between ADHD symptoms and psychosis in 22q11.2DS. Our findings support a potentially important role of ADHD inattention symptoms in psychosis in 22q11.2DS.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/fisiopatología , Síndrome de DiGeorge/fisiopatología , Conducta Impulsiva/fisiología , Trastornos Psicóticos/fisiopatología , Adolescente , Adulto , Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Niño , Comorbilidad , Síndrome de DiGeorge/epidemiología , Femenino , Humanos , Masculino , Trastornos Psicóticos/epidemiología , Adulto JovenRESUMEN
OBJECTIVE: Chromosome 22q11.2 deletion syndrome (22q11DS) confers 25% risk for psychosis and is an invaluable window for understanding the neurobiological substrate of psychosis risk. The Structured Interview for Prodromal Syndromes (SIPS) is well validated in nondeleted populations for detecting clinical risk but has only recently been applied to 22q11DS. We assessed the largest 22q11DS cohort to date and report on SIPS implementation and symptoms elicited. METHOD: The SIPS, including its 19 subscales, was administered to 157 individuals with 22q11DS aged 8 to 25 years. Youth and caregiver interviews were conducted and rated separately, then compared for agreement. Implementation of the SIPS in 22q11DS was challenging because of the prevalence of developmental delay and comorbid conditions. However, by explaining questions and eliciting examples, we were able to help youths and caregivers understand and respond appropriately. Consensus ratings were formulated and analyzed with itemwise and factor analysis. RESULTS: Subthreshold symptoms were common, with 85% of individuals endorsing 1 or more. The most commonly rated items were ideational richness (47%) and trouble with focus and attention (44%). Factor analysis revealed a 3-factor solution with positive, negative, and disorganized components. Youth-caregiver comparisons suggested that youths report greater symptoms of perceptual abnormalities, suspiciousness, trouble with emotional expression, and bizarre thinking. Caregivers reported more impaired tolerance to normal stress, poor hygiene, and inattention. CONCLUSION: The SIPS was adapted for 22q11DS through comprehensive and semi-structured administration methods, yielding a high prevalence of subthreshold psychotic symptoms. The significance and predictive validity of these symptoms require future longitudinal analysis.
Asunto(s)
Síndrome de Deleción 22q11/fisiopatología , Escalas de Valoración Psiquiátrica , Trastornos Psicóticos/diagnóstico , Síndrome de Deleción 22q11/complicaciones , Adolescente , Adulto , Femenino , Humanos , Masculino , Síntomas Prodrómicos , Trastornos Psicóticos/etiología , Adulto JovenRESUMEN
We report a patient with cat eye syndrome and interrupted aortic arch type B, a typical finding in the 22q11.2 deletion syndrome. Chromosomal analysis and fluorescent in situ hybridization (FISH) showed a supernumerary bisatellited isodicentric marker chromosome derived from chromosome 22. The segment from 22pter to 22q11.2 in the supernumerary chromosome found in our patient does not overlap with the region deleted in patients with the 22q11.2 deletion syndrome. However, the finding of an interrupted aortic arch type B is unusual in CES, although it is a frequent heart defect in the 22q11 deletion syndrome.
Asunto(s)
Aorta Torácica/anomalías , Deleción Cromosómica , Cromosomas Humanos Par 22/genética , Anomalías del Ojo/genética , Anomalías Múltiples/genética , Resultado Fatal , Femenino , Humanos , Lactante , SíndromeRESUMEN
Relatamos um caso de paciente com Síndrome do Olho de Gato (Cat Eye Syndrome-CES) e interrupção do arco aórtico tipo B, um achado típico na síndrome da deleção 22q11.2. A análise cromossômica e a técnica de hibridização fluorescente in situ (FISH) mostraram um cromossomo marcador isodicêntrico supranumerário com bi-satélite derivado do cromossomo 22. O segmento de 22pter a 22q11.2 no cromossomo supranumerário encontrado em nosso paciente não estava em sobreposição com a região deletada em pacientes com a síndrome da deleção 22q11.2. Entretanto, o achado de interrupção do arco aórtico tipo B não é usual na CES, mas é um defeito cardíaco freqüente na síndrome da deleção 22q11.
We report a patient with cat eye syndrome and interrupted aortic arch type B, a typical finding in the 22q11.2 deletion syndrome. Chromosomal analysis and fluorescent in situ hybridization (FISH) showed a supernumerary bisatellited isodicentric marker chromosome derived from chromosome 22. The segment from 22pter to 22q11.2 in the supernumerary chromosome found in our patient does not overlap with the region deleted in patients with the 22q11.2 deletion syndrome. However, the finding of an interrupted aortic arch type B is unusual in CES, although it is a frequent heart defect in the 22q11 deletion syndrome.
Informamos un caso de paciente con Síndrome de Ojo de Gato (Cat Eye Syndrome-CES) e Interrupción del Arco Aórtico tipo B, un hallazgo típico en el síndrome de la deleción 22q11.2. El análisis cromosómico y la técnica de hibridación in situ fluorescente (FISH) mostraron un cromosoma marcador isodicéntrico supernumerario bisatelitado derivado del cromosoma 22. El segmento de 22pter a 22q11.2 en el cromosoma supernumerario encontrado en nuestro paciente no estaba en sobreposición con la región deletada en pacientes con el síndrome de la deleción 22q11.2. Con todo, el hallazgo de interrupción del arco aórtico tipo B no es usual en el CES, sino que es un defecto cardíaco frecuente en el síndrome de deleción 22q11.
Asunto(s)
Femenino , Humanos , Lactante , Aorta Torácica/anomalías , Deleción Cromosómica , /genética , Anomalías del Ojo/genética , Anomalías Múltiples/genética , Resultado Fatal , SíndromeRESUMEN
We report on the case of a patient with a typical de novo 3 Mb 22q11.2 deletion. Haplotype reconstruction of the family, using polymorphic markers flanking the deleted region, demonstrated a complex mechanism of origin of the deletion, involving one intrachromosomal and two interchromosomal events.