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Clinicians and scientists interested in developmental biology have viewed preaxial polydactyly (PPD) and longitudinal preaxial ray deficiency (LPAD) as two different entities. Point mutations and duplications in the zone of polarizing activity regulatory sequence (ZRS) are associated with anterior ectopic expression of Sonic Hedgehog (SHH) in the limb bud and usually result in a PPD phenotype. However, some of these mutations/duplications also have LPAD in the phenotype. This unusual PPD-LPAD association in ZRS mutations/duplications has not been specifically reviewed in the literature. The author reviews this unusual entity and gives insights regarding its pathogenesis. [ABSTRACT FROM AUTHOR]

Introduction. Klippel–Feil syndrome (KFS) is a congenital anomaly resulting from fusion of cervical vertebral bodies secondary to the dysregulation of signaling pathways during somite development. It is commonly associated with scoliosis and Sprengel deformity. We present a case of KFS with commonly associated abnormalities as well as deformities that have not yet been reported in the literature. Case Presentation. A 3-year-old girl presented for further evaluation of a left upper extremity deformity following a negative genetic workup. Upon physical exam and radiographic imaging, the patient was diagnosed with KFS and associated abnormalities including cervical scoliosis, Sprengel deformity, and congenital deformity of the left upper extremity. Deformities of the left upper extremity include radioulnar synostosis, a four-rayed hand, and absent thenar musculature. The Sprengel deformity was corrected surgically with a Woodward procedure. Discussion. Congenital musculoskeletal deformities can be differentiated based upon spinal and limb embryology. The presence of extraspinal abnormalities not originating from somite differentiation may suggest a severe form of KFS. Important considerations in the workup of the KFS patient include looking for deformities of the shoulder girdle and upper extremities to identify abnormalities for intervention at a young age. [ABSTRACT FROM AUTHOR]

Deep vein thrombosis (DVT) is a rare disease in patients with hemophilia A. We report a case of 22-year-old male with severe hemophilia A who presented to the emergency room with 5-day history of right arm pain that was attributed initially to bleeding event. In the absence of external signs of bleeding or hematoma and normal hemoglobin level, we suspected an underlying DVT. Doppler ultrasonography of the right upper limb revealed thrombosis of the subclavian vein and this was confirmed by CT venography. The d-dimer level was normal and investigations for prothrombotic state revealed heterozygosity for prothrombin G20210A mutation. Treatment with factor VIII and low molecular weight heparin led to successful resolution and marked improvement of his clinical condition. [ABSTRACT FROM AUTHOR]

Background. Stroke commonly affects upper extremity motor abilities, yet there has been very limited success in developing effective rehabilitation interventions to remediate motor impairments, particularly for the upper extremity. Objective. To determine if task-oriented practice administered soon after stroke is more effective than usual care in improving poststroke upper extremity motor recovery and to explore the optimal amount of practice. Methods. A systematic review of the literature was performed from 1950 to November 2012, to identify randomized controlled trials of task-oriented practice compared to usual care, or to different amounts of task-oriented practice to improve motor impairment and activity. Studies were excluded if specific types of interventions were used as comparators or if they were of poor methodological quality. Results. Six studies met the review criteria. Three of the six studies demonstrated a statistically significant effect of task-oriented practice. Study results could not be pooled because of a lack of homogeneity in populations and intervention. Conclusions. The results demonstrate that an increase in the amount of task-oriented practice after stroke may result in less upper extremity impairment; further research on both effect and required dosage is needed as results are inconsistent. [ABSTRACT FROM AUTHOR]

Upper limb ischemia presenting in neonatal period is extremely rare. Moreover, presenting newborn with evidence of intrauterine upper limb vascular occlusion is even rarer. It needs prompt intervention to restore perfusion and avoid morbidity. We present a newborn with right upper limb brachial artery thrombosis causing ischemia that was noted at birth and appeared later to be homozygous for factor V Leiden and glycoprotein IIIa with no other identifiable risk factors. In this report, we present the case, its successful medical management, proper counseling, and review of the literature. We recommend investigating the neonates and their parents for thrombophilia mutations when they present with unusual vascular occlusion site as newborns. [ABSTRACT FROM AUTHOR]

Paget-Schroetter syndrome is a form of upper limb deep venous thrombosis usually seen in younger patients in association with repetitive activities of the affected limb. When occurring in more elderly patients or in those where it is difficult to appreciate a causative mechanism, other aetiologies should be considered. We present a case in which degenerative osteoarthritis of the sternoclavicular joint with osteophyte development impinged on the subclavian vein, leading to extensive upper limb thrombosis. The difficulties in identifying and managing this unusual cause of Paget-Schroetter are presented and discussed. [ABSTRACT FROM AUTHOR]