The objective of this study was to supply quantitative information about the facial soft-tissues of a group of subjects with Down syndrome. The three-dimensional coordinates of 28 soft-tissue facial landmarks were obtained by an electromechanic digitizer in 17 male and 11 female subjects with Down syndrome aged 12-45 years, and in 429 healthy individuals of the same age, ethnicity, and sex. From the landmarks, facial areas (eyes, ears, nose, and lips) and volumes (nose and lips) were calculated according to a geometrical model of face. Data were compared to those collected in the normal subjects by computing z-scores. Male and female z-scores were not significantly different. Most of the facial volumes were significantly (Student's t, P < 0.05) smaller in subjects with Down syndrome than in their normal controls. Ear areas were significantly reduced (mean z-scores in males -2.07 right, -1.9 left; in females -2.11 right, -2.21 left), as well as nasal surface area (mean z-score -1.53 in males, -2.45 in females). In women, age and some z-scores were significantly correlated (P < 0.05): upper lip volume (r = 0.714), left and right eye area (r = 0.635, right; 0.604, left), nasal area (r = 0.603): with increasing age, the negative values of the z-scores approached the 0 value of the reference population. In the pooled sample, age and the z-score of the total lip area were significantly correlated (r = 0.423): increasing age corresponded to a larger z-score value. The method allowed a simple, low cost, fast, and noninvasive examination of the subjects, and provided a quantitative assessment of the deviation from the norm.
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http://dx.doi.org/10.1002/ajmg.a.30253 | DOI Listing |
Cureus
December 2024
Department of Neurosurgery, Kohka Public Hospital, Kohka, JPN.
Central venous catheters (CVCs) are commonly used for multiple clinical purposes. The internal jugular vein (IJV) is preferred among the most frequently used insertion sites due to its higher success rates and lower complication risks. Although CVC placement is generally considered a safe procedure, several complications have been reported.
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December 2024
Department of Critical Care Medicine, St. Luke's International Hospital, Tokyo, JPN.
Systemic capillary leak syndrome (SCLS) is a rare and life-threatening disorder characterized by acute hypotension, hypoalbuminemia, and hemoconcentration, which often results in severe respiratory complications, such as pulmonary edema. SCLS can be triggered by infections, including COVID-19, and is associated with a high mortality rate. Here, we report a case of COVID-19-associated SCLS in a 68-year-old man.
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December 2024
Gastroenterology and Hepatology, Aberdeen Royal Infirmary Hospital, Aberdeen, GBR.
Intraductal papillary neoplasm of the bile duct (IPNB) is a precursor lesion to biliary tract carcinoma. It is characterised by papillary growth within the bile ducts. The diagnosis and management of IPNB are challenging due to its varying presentations and overlapping features with other biliary diseases.
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December 2024
Internal Medicine Department, Hamad Medical Corporation, Doha, QAT.
Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening syndrome of excessive immune activation, leading to severe inflammation and organ damage. While more common in infants, HLH can occur at any age and is often triggered by infections such as Epstein-Barr virus (EBV). In this case, a 38-year-old man presented with a three-week history of fevers, night sweats, poor appetite, and severe anemia.
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December 2024
Hematology, Avicenna Military Hospital, Marrakesh, MAR.
Congenital factor VII (FVII) deficiency is a rare genetic disorder with autosomal recessive inheritance, characterized by molecular and clinical heterogeneity. This article reports four Moroccan cases of FVII deficiency within the same family, two of which were associated with Gilbert's syndrome. The index case was a 15-year-old girl with a history of menorrhagia and jaundice.
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