Hypophosphatasia: Novel Mutation Associated With An Atypical Newborn Presentation

We report the case of a preterm newborn in whom a corneal opacity was detected at birth. Blood tests performed to investigate this finding showed low alkaline phosphatase concentrations. The corneal opacity disappeared within a week but alkaline phosphatase remained persistently low. With persistently decreased levels of alkaline phosphatase, upon suspicion of hypophosphatasia, plain radiography detected changes suggestive of rickets. Sequencing of the ALPL gene revealed a heterozygous variant that has not been described in the literature to date. Our patient’s condition could be an atypical neonatal form of the syndrome, with a mild phenotype, very different from the classic neonatal form which can lead to severe skeletal disease and respiratory failure. However, it could also be an early diagnosis of the childhood form, with better prognosis. PMID: 30929401 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

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This report serves as a preliminary study and may be a surgical option for minimally invasive direct repair.
Source: Journal of Clinical Neuroscience - Category: Neuroscience Source Type: research
Conclusion: Preliminary results showed that the restoration of rostral CSF flow might result in an effective ITB treatment in patients with an intrathecal obstruction. PMID: 31418647 [PubMed - as supplied by publisher]
Source: Journal of Spinal Cord Medicine - Category: Orthopaedics Tags: J Spinal Cord Med Source Type: research
CONCLUSION: BD quantified by DRx was associated with the typical complications of MBD in CKD and showed to be viable in the evaluation of bone alterations in CKD. PMID: 31419270 [PubMed - as supplied by publisher]
Source: Jornal Brasileiro de Nefrologia - Category: Urology & Nephrology Tags: J Bras Nefrol Source Type: research
AbstractPurposeThe gold standard for intramedullary nailing (IMN) in humeral shaft fracture treatment is bipolar interlocking. The aim of this study was to compare clinical and radiographic outcomes in two cohorts of patients treated with IMN with or without distal interlocking. We hypothesized that there was no significant difference between isolated proximal interlocking and bipolar interlocking in terms of consolidation and clinical results.MethodsOne hundred twenty-one acute humeral shaft fractures were retrospectively included in group WDI (without distal interlocking screw,n = 74) or in group DI (with d...
Source: International Orthopaedics - Category: Orthopaedics Source Type: research
ConclusionThis study demonstrates that a dual offset tapered stem achieved excellent survivorship and stability, as well as good clinical outcome scores with minimal thigh pain and stress shielding in patients with arthritis and developmental dysplasia of the hip; a dual offset tapered stem may be a suitable option for primary total hip arthroplasty in this group.
Source: International Orthopaedics - Category: Orthopaedics Source Type: research
Conclusions: The presented angular insertion depth prediction method is a first practical approach to support the preoperative selection of cochlear implant electrode arrays. However, the presented procedure is limited in that it is unable to predict the occurrence of insertion results with extracochlear electrodes and requires user training.
Source: Otology and Neurotology - Category: ENT & OMF Tags: COCHLEAR IMPLANTS Source Type: research
This study evaluates the number of incidental findings reported from orthopaedic radiographs ordered in an academic orthopaedic multispecialty group over 1 year. METHODS: A retrospective review was conducted of 13,948 eligible radiographs recorded at our institution over a 12-month period. Reports were categorized based on examination type. Incidental findings were categorized as having concern for possible malignancy versus likely benign conditions. The possibly malignant findings were then further subdivided into either bone or lung malignancies. The benign findings were subcategorized by etiology and anatomic locati...
Source: The Journal of the American Academy of Orthopaedic Surgeons - Category: Orthopaedics Tags: J Am Acad Orthop Surg Source Type: research
Authors: Brubacher JW, Grote CW, Tilley MB Abstract Evaluation of periarticular traumatic wounds for joint penetration is a common clinical concern for orthopaedic surgeons. Wounds that violate the joint capsule can result in deep infection and sepsis. Understanding the anatomic landmarks and capsular extensions of the major joints is key to proper evaluation. Initial evaluation of periarticular wounds includes thorough examination of the wound and plain radiographs. Historically, the saline load test has been the diagnostic test of choice for assessing traumatic arthrotomy; however, CT has recently been shown to h...
Source: The Journal of the American Academy of Orthopaedic Surgeons - Category: Orthopaedics Tags: J Am Acad Orthop Surg Source Type: research
Authors: Lyudmer M, Levy BJ, Holtzman AJ, Sankaranarayanan S, Tabeayo E, Gruson KI Abstract INTRODUCTION: Plain radiographs of the shoulder are routinely obtained for patients presenting with atraumatic shoulder pain, although the diagnostic utility of this imaging modality is unclear. Despite this, patients often prefer to obtain radiographs and may associate them with a more satisfactory visit. METHODS: New patients presenting with atraumatic shoulder pain were provided with information regarding the potential advantages and disadvantages of plain radiographs as part of their visit. Patients then decided whet...
Source: The Journal of the American Academy of Orthopaedic Surgeons - Category: Orthopaedics Tags: J Am Acad Orthop Surg Source Type: research
ConclusionAn intact lacertus fibrosus contributes to elbow strength and should be preserved in distal biceps tendon repair.Level of evidenceIII.
Source: Knee Surgery, Sports Traumatology, Arthroscopy - Category: Orthopaedics Source Type: research
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