RESUMO
Dyke-Davidoff-Masson syndrome (DDMS) was first described in 1933 as a clinical condition characterized by hemiatrophy, hyperpneumatization of paranasal sinuses, contralateral hemiparesis, facial asymmetry, seizures, and mental retardation.1 DDMS can be of 2 types: congenital and acquired. The congenital type can be caused by various conditions experienced during fetal or early childhood development, including ischemia, infarction, trauma, infections, and hemorrhage. The acquired type is mostly associated with hemorrhage, trauma, and infections experienced after 1 month of age. DDMS can manifest alone or can be accompanied by crossed cerebellar atrophy (CCA) which is a newly discovered radiological marker characterized by prominent cortical sulci and loss of cerebellar parenchyma. The congenital type of DDMS is known to be accompanied by ipsilateral cerebellar atrophy and the acquired type is known to be accompanied by contralateral cerebellar atrophy.2,3 Supratentorial events may lead to destruction in the cortico-ponto-cerebellar pathways, mostly in the contralateral side of the body (80%) due to decussation.4 In this report, we present 2 cases of DDMS accompanied by CCA to emphasize the possibility that the DDMS cases with severe intrauterine hemorrhage can be accompanied by contralateral CCA and migratory abnormalities rather than ipsilateral CCA and clinical survey.
Assuntos
Doenças Cerebelares/complicações , Epilepsia Generalizada/complicações , Hemorragias Intracranianas/etiologia , Convulsões Febris/complicações , Adolescente , Anticonvulsivantes/uso terapêutico , Atrofia , Doenças Cerebelares/congênito , Doenças Cerebelares/diagnóstico por imagem , Doenças Cerebelares/tratamento farmacológico , Epilepsia Generalizada/congênito , Epilepsia Generalizada/diagnóstico por imagem , Epilepsia Generalizada/tratamento farmacológico , Feminino , Humanos , Lactente , Hemorragias Intracranianas/diagnóstico por imagem , Hemorragias Intracranianas/tratamento farmacológico , Imageamento por Ressonância Magnética , Fatores de Risco , Convulsões Febris/congênito , Convulsões Febris/diagnóstico por imagem , Convulsões Febris/tratamento farmacológico , Esteroides/uso terapêutico , Síndrome , Resultado do TratamentoRESUMO
Partial deletion of the long arm of the chromosome 13, 13q deletion syndrome is a rare chromosomal disorder characterized by severe growth and mental retardation, microcephaly, facial dysmorphism, brain malformations (holoprosencephaly, Dandy-Walker malformation), distal limb defects, eye anomalies, genitourinary and gastrointestinal tract malformations (Hirschsprung's disease). Approximately 1.2 Mb region in 13q32 was suggested as minimal critical region which is responsible for severe mental and growth retardation and brain anomalies. Here we described a male patient with de novo interstitial deletion of 13q31.1-q34 associated with short stature, microcephaly, facial dysmorphism, clinodactyly, cryptorchidism, micropenis, epilepsy, HPE, DWM, and HSCR. According to the literature review, present case indicated that smallest deleted region associated with DWM and HPE might be located at the 13q32.3, limb defects 13q34, anogenital malformations 13q33.3-34, and HSCR 13q31.1-32.1.
Assuntos
Anormalidades Múltiplas/genética , Transtornos Cromossômicos/genética , Síndrome de Dandy-Walker/genética , Doença de Hirschsprung/genética , Holoprosencefalia/genética , Deleção Cromossômica , Cromossomos Humanos Par 13/genética , Humanos , Lactente , MasculinoRESUMO
OBJECTIVE: We aimed to investigate the effect of mad honey on sexual performance. BACKGROUND: In traditional medicine in Turkey, mad honey is used to improve appetite, to heighten mental alertness, to reduce joint pain, to eliminate gastrointestinal system pains and to increase sexual performance. METHODS: In this experimental animal study eighteen Sprague Dawley male rats were randomized into three groups, a control group, a normal honey group and a mad honey group. Rats in the treatment groups were given a daily dose of 80 mg/kg normal honey or mad honey throughout the 30-day study period. Total testosterone, free testosterone, FSH, LH, estradiol, and progesterone levels were subsequently investigated from blood sera on day 30. RESULTS: Comparison of blood total testosterone levels among the groups revealed significantly higher levels in the mad honey group compared to the normal honey and control groups (p = 0.006, p = 0.00). Free testosterone levels were also significantly higher in the mad honey group than in the normal honey and control groups (p = 0.023, p = 0.01). No statistically significant differences were determined for other hormonal measurements. CONCLUSIONS: This study revealed a significant increase in both total and free testosterone levels in mad-honey group (Tab. 1, Fig. 2, Ref. 16).
Assuntos
Mel/efeitos adversos , Comportamento Sexual , Testosterona/sangue , Animais , Hormônio Foliculoestimulante/sangue , Humanos , Hormônio Luteinizante/sangue , Masculino , Progesterona/sangue , Distribuição Aleatória , Ratos , Ratos Sprague-DawleyRESUMO
PURPOSE OF INVESTIGATION: To develop a nomogram for estimating nasal bone length (NBL) at 11(+0) - 13(+6) weeks of gestation in 554 consecutive cases and to determine the value of NBL measurement in screening for chromosomal abnormalities. MATERIALS AND METHODS: NBL and crown-rump length (CRL) were examined in 554 fetuses at 11(+0) - 13(+6) weeks' gestation. A nomogram for NBL was developed with data from 479 healthy fetuses in which fetal profile examination was possible. Reference values, including percentiles, weie calculated for each gestational age. RESULT: A linear correlation was noted between CRL and NBL in healthy fetuses at 11(+0) - 11(+6), 12(+0) - 12(+6) and 13(+0) - 13(+6) weeks of gestation. Mean NBL was 2.18 +/- 0.53 mm, 2.46 +/- 0.45 mm, and 2.91 +/- 0.55 mm in healthy fetuses, for these time frames, respectively. NBL increased significantly with CRL from respective means of 2.26 +/- 0.43, 2.60 +/- 0.48, 2.77 +/- 0.43, and 3.16 +/- 0.52 mm at 45 - 54.9, 55 - 64.9, 65 +/- 74.9, and 75 - 84 mm. CONCLUSION: The authors developed a NBL nomogram with data from normal, healthy Turkish fetuses at 11(+0) - 13(+6) weeks of gestation. These reference ranges may prove useful in prenatal screening and diagnosis of syndromes known to be associated with nasal hypoplasia.
Assuntos
Transtornos Cromossômicos/diagnóstico por imagem , Osso Nasal/embriologia , Diagnóstico Pré-Natal/métodos , Adolescente , Adulto , Estatura Cabeça-Cóccix , Síndrome de Down/diagnóstico , Feminino , Idade Gestacional , Humanos , Pessoa de Meia-Idade , Osso Nasal/diagnóstico por imagem , Gravidez , Primeiro Trimestre da Gravidez , Valores de Referência , Ultrassonografia Pré-Natal , Adulto JovemRESUMO
BACKGROUND: Early identification of a patient with infection who may develop sepsis is of utmost importance. Unfortunately, this remains elusive because no single clinical measure or test can reflect complex pathophysiological changes in patients with sepsis. However, multiple clinical and laboratory parameters indicate impending sepsis and organ dysfunction. Screening tools using these parameters can help identify the condition, such as SIRS, quick SOFA (qSOFA), National Early Warning Score (NEWS), or Modified Early Warning Score (MEWS). We aim to externally validate qSOFA, SIRS, and NEWS/NEWS2/MEWS for in-hospital mortality among adult patients with suspected infection who presenting to the emergency department. METHODS AND ANALYSIS: PASSEM study is an international prospective external validation cohort study. For 9 months, each participating center will recruit consecutive adult patients who visited the emergency departments with suspected infection and are planned for hospitalization. We will collect patients' demographics, vital signs measured in the triage, initial white blood cell count, and variables required to calculate Charlson Comorbidities Index; and follow patients for 90 days since their inclusion in the study. The primary outcome will be 30-days in-hospital mortality. The secondary outcome will be intensive care unit (ICU) admission, prolonged stay in the ICU (i.e., ≥72 hours), and 30- as well as 90-days all-cause mortality. The study started in December 2021 and planned to enroll 2851 patients to reach 200 in-hospital death. The sample size is adaptive and will be adjusted based on prespecified consecutive interim analyses. DISCUSSION: PASSEM study will be the first international multicenter prospective cohort study that designated to externally validate qSOFA score, SIRS criteria, and EWSs for in-hospital mortality among adult patients with suspected infection presenting to the ED in the Middle East region. STUDY REGISTRATION: The study is registered at ClinicalTrials.gov (NCT05172479).
Assuntos
Sepse , Síndrome de Resposta Inflamatória Sistêmica , Adulto , Humanos , Estudos de Coortes , Serviço Hospitalar de Emergência , Mortalidade Hospitalar , Estudos Multicêntricos como Assunto , Escores de Disfunção Orgânica , Prognóstico , Estudos Prospectivos , Estudos Retrospectivos , Curva ROC , Sepse/diagnósticoAssuntos
Cariótipo Anormal , Cromossomos Humanos Par 4/genética , Cromossomos Humanos Par 9/genética , Doenças Fetais/genética , Derrame Pleural/genética , Translocação Genética/genética , Adulto , Feminino , Marcadores Genéticos , Idade Gestacional , Humanos , Gravidez , Resultado da Gravidez , Remissão EspontâneaRESUMO
Pulmonary artery sling (PAS) is a rare congenital anomaly frequently accompanied by focal or long-segment tracheal stenosis. We presented a 34-year-old female patient with severe long-segment tracheal stenosis associated with PAS which was assessed with Multi Slice Computed Tomography (MSCT) consisting of axial, three dimensional and virtual bronchoscopic images of the airway. This case report discussed the management of her difficult airway condition during surgical cholecystectomy and thyroidectomy by using proseal- LMA and I-gel, respectively (Fig. 4, Ref. 10).
Assuntos
Manuseio das Vias Aéreas/instrumentação , Artéria Pulmonar/anormalidades , Estenose Traqueal , Adulto , Feminino , Humanos , Estenose Traqueal/complicaçõesRESUMO
UNLABELLED: We present a rare complex variation of the inferior vena cava and internal iliac veins demonstrated by a multidetector computed tomography. It was shown that patient had double inferior vena cava with azygos continuation of the right inferior vena cava, retroaortic left renal vein and the left and right internal iliac veins converged and drained to the right external iliac vein through a common trunk. These variations of the inferior vena cava and iliac veins are important in the retroperitoneal surgery. We present multidetector computed tomography findings of this complex variation (Fig. 3, Ref. 12). KEYWORDS: double inferior vena cava, azygos continuation, retroaortic left renal vein, iliac vein variation, multidetector computed tomography.
Assuntos
Veia Ázigos/anormalidades , Veia Ilíaca/anormalidades , Veias Renais/anormalidades , Veia Cava Inferior/anormalidades , Veia Ázigos/diagnóstico por imagem , Feminino , Humanos , Veia Ilíaca/diagnóstico por imagem , Pessoa de Meia-Idade , Tomografia Computadorizada Multidetectores , Veias Renais/diagnóstico por imagem , Veia Cava Inferior/diagnóstico por imagemRESUMO
UNLABELLED: We described a Turkish girl with Chanarin-Dorfman syndrome who developed liver cirrhosis in the early infancy. She had all the clinical features of Chanarin-Dorfman syndrome such as ichthyosis, Jordan's anomaly, fatty liver disease and mild ectropion. The diagnosis was confirmed with a novel ABHD5 mutation. Liver steatosis or steatohepatitis with or without hepatomegaly is the predominant finding of Chanarin-Dorfman syndrome. Cirrhosis has been reported in patients with long-duration disease. CONCLUSION: Local factors or dysfunction of local proteins such as mutations or polymorphisms in hepatic microsomal lipase and arylacetamide deacetylase may contribute the severity of liver involvement, and steatosis may progress to cirrhosis in the early infancy in Chanarin-Dorfman syndrome.
Assuntos
1-Acilglicerol-3-Fosfato O-Aciltransferase/genética , Sítios de Splice de RNA/genética , Pré-Escolar , Consanguinidade , Fígado Gorduroso/etiologia , Feminino , Humanos , Eritrodermia Ictiosiforme Congênita/diagnóstico , Eritrodermia Ictiosiforme Congênita/dietoterapia , Eritrodermia Ictiosiforme Congênita/genética , Erros Inatos do Metabolismo Lipídico/diagnóstico , Erros Inatos do Metabolismo Lipídico/dietoterapia , Erros Inatos do Metabolismo Lipídico/genética , Cirrose Hepática , Doenças Musculares/diagnóstico , Doenças Musculares/dietoterapia , Doenças Musculares/genética , MutaçãoRESUMO
Idiopathic infantile arterial calcification (IIAC) is a rare disease of unknown etiology, which is characterized by arterial calcification. A 29-year-old primigravida at 33 weeks' gestation was referred for further evaluation for polyhydramniosis. An ultrasonographic examination revealed an intrauterine growth restricted fetus, pericardial effusion, increased renal cortical echogenicity with sparing of corticomedullary differentiation, and diffuse arterial calcifications involving the aorta, pulmonary artery, common iliac arteries, renal arteries, and common carotid arteries. At 35 weeks of gestation a cesarean section was performed because of fetal distress. A 1900 g male infant was delivered. Postnatal examination confirmed the diagnosis of IIAC with dysmorphic features (clinodactily and low-set ears) and normal constitutional karyotype. The baby died when he was four months old in the newborn care unit. During routine obstetric ultrasonography, the combination of polyhydramniosis and intrauterine growth restriction may necessitate examination of the major vessels for presumptive a diagnosis of IIAC.
Assuntos
Artérias/patologia , Calcinose/patologia , Diagnóstico Pré-Natal , Doenças Vasculares/patologia , Adulto , Evolução Fatal , Feminino , Retardo do Crescimento Fetal/diagnóstico , Comunicação Interatrial/diagnóstico por imagem , Humanos , Hipertensão Pulmonar/diagnóstico por imagem , Lactente , Masculino , Poli-Hidrâmnios/diagnóstico , Gravidez , Tomografia Computadorizada por Raios X , Insuficiência da Valva Tricúspide/diagnóstico por imagem , UltrassonografiaRESUMO
OBJECTIVE: To examine the relationship between degenerative aortic valve disease and osteoarthritis Background: Degenerative aortic valve disease (DAVD) and osteoarthritis (OA) are age-related degenerative diseases whose pathogenesis involves mechanical stress and local inflammation. METHODS: Forty-four patients with DAVD (Group 1) and 21 controls (Group 2) were included in this study, which was intended to investigate the similarity between the two conditions. The two groups were similar in terms of age, sex, body mass index, a history of hypertension, cholesterol levels, diabetes mellitus and cigarette consumption. RESULTS: The average age + standard deviation of the DAVD patients were 71.3 +/- 7.5, compared to 67.5 +/- 10.6 in the control group. In radiological OA analysis, the Lane scale was employed in the lumbar region and the Kellgren-Lawrence scale in the knee joint. Comparison of Groups 1 and 2 revealed no difference in radiological OA in the lumbar region and knee joint. CONCLUSION: Our study has shown that there is no relationship between these diseases that increased with age. However, extensive studies examining pathogenic mechanisms are needed (Tab. 2, Ref. 11).
Assuntos
Envelhecimento , Estenose da Valva Aórtica/complicações , Calcinose/complicações , Osteoartrite/complicações , Idoso , Estenose da Valva Aórtica/diagnóstico por imagem , Ecocardiografia , Feminino , Humanos , Articulação do Joelho/diagnóstico por imagem , Vértebras Lombares/diagnóstico por imagem , Masculino , Osteoartrite/diagnóstico por imagem , Radiografia , Fatores de RiscoAssuntos
Deleção Cromossômica , Transtornos Cromossômicos , Mosaicismo , Pré-Escolar , Transtornos Cromossômicos/genética , Transtornos Cromossômicos/patologia , Transtornos Cromossômicos/fisiopatologia , Cromossomos Humanos Par 18/genética , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Humanos , Masculino , FenótipoRESUMO
In the present study, 386 patients with the diagnosis of poisoning admitted to the Pediatric Emergency Unit of Farabi Hospital of Medical Faculty of Karadeniz Technical University between January 2002 and December 2006 were retrospectively evaluated with respect to gender, age, cause of poisoning, type of substance used, route of exposure, reason for the intake, signs and symptoms, time of referral to the hospital, hospitalization period, and prognosis. The age group of most poisoning cases was <5 years of age and constituted 51% (n = 197) of all cases. The main toxic agent was drugs (70.2%), followed by foods (8.8%), rodenticides (7%), insecticides/pesticides (4.9%), and carbon monoxide (4.7%). In childhood poisonings, accidental drug poisoning was frequent in toddlers, whereas suicidal poisoning was frequent in adolescents. The suicidal poisoning rate was 23.8% among all poisoning patients, and 98.9% of these patients were adolescents. The suicidal poisoning rates for males and females were 30% and 70%, respectively. An increase in suicidal and inhalation poisonings was observed when compared with previous studies that have been conducted in the same region. The results of the present study suggest that poisonings still represents an important health problem that could be prevented by safe drug storage at home, as well as parental education on adolescence issues, particularly those regarding females.