scholarly journals Update Review and Clinical Presentation in Congenital Insensitivity to Pain and Anhidrosis

2015 ◽  
Vol 2015 ◽  
pp. 1-7 ◽  
Author(s):  
L. M. Pérez-López ◽  
M. Cabrera-González ◽  
D. Gutiérrez-de la Iglesia ◽  
S. Ricart ◽  
G. Knörr-Giménez
Keyword(s):  
Therapeutic Approach ◽  
Bone Fractures ◽  
Weight Bearing ◽  
Genetic Mutation ◽  
Review Literature ◽  
Long Bone ◽  
Early Weight Bearing ◽  
Congenital Insensitivity ◽  
Congenital Insensitivity To Pain ◽  
Insensitivity To Pain

Introduction. Congenital insensitivity to pain and anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV is an extremely rare syndrome. Three clinical findings define the syndrome: insensitivity to pain, impossibility to sweat, and mental retardation. This pathology is caused by a genetic mutation in the NTRK1 gene, which encodes a tyrosine receptor (TrkA) for nerve growth factor (NGF).Methods. The consultation of a child female in our center with CIPA and a tibia fracture in pseudoarthrosis encouraged us to carefully review literature and examine the therapeutic possibilities. A thorough review of literature published in Pubmed was done about CIPA and other connected medical issues mentioned in the paper.Conclusions. The therapeutic approach of CIPA remains unclear. The preventive approach remains the only possible treatment of CIPA. We propose two new important concepts in the therapeutic approach for these patients: (1) early surgical treatment for long bone fractures to prevent pseudoarthrosis and to allow early weight bearing, decreasing the risk of further osteopenia, and (2) bisphosphonates to avoid the progression of osteopenia and to reduce the number of consecutive fractures.

Locked Plating Versus Spiral Blade Retrograde Nailing in Supracondylar Femoral Fractures

2012 ◽  
Author(s):  
Soroush Assari ◽  
Alan Kaufman ◽  
Kurosh Darvish ◽  
Saqib Rehman ◽  
Jung Park ◽  
...  
Keyword(s):  
Bone Fractures ◽  
Weight Bearing ◽  
Femoral Fractures ◽  
The Elderly ◽  
Long Bone ◽  
Supracondylar Fractures ◽  
Locked Plating ◽  
Early Weight Bearing ◽  
Femur Fractures ◽  
Retrograde Femoral Nailing

Comminuted supracondylar femur fractures in the elderly are often treated with either retrograde femoral nailing or locked plating. Early weight-bearing is typically restricted after fixing supracondylar fractures, thereby impairing the patient’s mobilization. In general, surgeons are more comfortable allowing early weight-bearing of long bone fractures after nailing rather than plating, but early studies of retrograde nails for supracondylar fractures using standard distal locking showed poor fixation compared with locked plating.

scholarly journals Novel NTRK1 mutation in Chinese patient with congenital insensitivity to pain with anhidrosis: A Case Report

2020 ◽  
Author(s):  
Jing Sha ◽  
Zaochun Xu ◽  
Jingfang Zhai ◽  
Bei Zhang ◽  
Yanling Zhang ◽  
...  
Keyword(s):  
Case Report ◽  
Novel Mutation ◽  
Genetic Mutation ◽  
Chinese Patient ◽  
Tyrosine Kinase Receptor ◽  
Sequencing Analysis ◽  
Congenital Insensitivity ◽  
In Silico Studies ◽  
Congenital Insensitivity To Pain ◽  
Insensitivity To Pain

Abstract Objective : Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessively inherited disorder characterized by insensitivity to noxious stimuli and inability to sweat. Methods : In this case report, an 18-year-old Chinese boy diagnosed with CIPA with the clinical features of loss of algesthesis, inability to sweat, self-mutilation, developmental delay and dislocation of the left hip joint. Blood samples from the patient was collected and subjected to genetic analysis. Results : Sequencing analysis revealed a novel mutation, c.1769A>G, in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1). In silico studies suggested that the mutations described are detrimental to the function of the protein encoded by the NTRK1 gene. Conclusions : The novel mutation widen the genetic mutation spectrum of NTRK1 in CIPA patients, and provide more evidence for precise diagnosis of the clinically suspected patients with CIPA.

scholarly journals Titanium elastic percutaneous nails for pediatric long bone shaft fractures: current concept

2017 ◽  
Vol 16 (1) ◽  
pp. 61-68 ◽  
Author(s):  
Ramji Lal Sahu ◽  
Nadeem Ahmed
Keyword(s):  
Bone Fractures ◽  
Weight Bearing ◽  
Medical Science ◽  
Early Mobilization ◽  
Lower Limbs ◽  
Long Bone ◽  
Full Weight Bearing ◽  
Entry Site ◽  
Early Weight Bearing ◽  
Mean Time

Introduction: The objective of this study was to determine the effectiveness and the complications associated with elastic stable intramedullary nailing in long bone fractures in children.Methods: This study was conducted in the Department of Orthopaedic surgery in M. M. Medical College from July 2006 to November 2009. Eighty two patients were recruited from Emergency and out patient department having closed fracture of long bones of upper and lower limbs. All patients were operated under general or spinal anaethesia. All patients were followed for twelve months.Results: All children achieved union in a mean time of 10 weeks (range from 6 - 16 weeks) depending on the type of long bone. Full weight bearing was possible in a mean time of 8.8 weeks. Mean duration of hospital stay was 9.8 days. The mean follow-up period was 28 months (17-48 months). Complications were recorded in 5 (6.09%) patients and included: two entry site skin irritations, one protrusion of the wires through the skin and two delayed union. The results were excellent in 97.310% and good in 2.44% patients.Conclusion: We concluded that this technique is advantageous because of early mobilization (early weight bearing), less complication with good results and is economical.Bangladesh Journal of Medical Science Vol.16(1) 2017 p.61-68

scholarly journals Guided growth in the correction of knee deformity in patients with congenital insensitivity to pain

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Soroush Baghdadi ◽  
Sadegh Saberi ◽  
Taghi Baghdadi
Keyword(s):  
Demographic Data ◽  
Joint Destruction ◽  
Walking Ability ◽  
Guided Growth ◽  
Tertiary Referral Hospital ◽  
Common Procedure ◽  
Correction Rate ◽  
Congenital Insensitivity ◽  
Congenital Insensitivity To Pain ◽  
Insensitivity To Pain

Abstract Background Orthopedic manifestations of congenital insensitivity to pain (CIP) can be devastating if left untreated. Knee deformities are common in patients with CIP and might lead to joint destruction and loss of walking ability. The purpose of the present study was to report the results and complications of guided growth procedures around the knee in patients with CIP. Methods In a retrospective review, all patients with CIP who underwent guided growth procedures around the knee from 2009 to 2017 at a tertiary referral hospital were evaluated. Patients with secondary insensitivity to pain (e.g., syringomyelia), as well as patients with incomplete records, were excluded. Demographic data, clinical findings, correction rate, and complications were recorded. Results Ten knees in six patients fulfilled the inclusion criteria. The median age was 10 (range, 5–12), with a mean follow-up of 31 months (range, 16–56). Distal femoral tension-band hemiepiphysiodesis was the most common procedure, followed by proximal tibial hemiepiphysiodesis. The mean correction rate was 0.28°/month for femoral deformity. Staples were removed prematurely in one patient due to extrusion. No cases of infection or skin dehiscence were observed. None of the patients needed a reconstructive knee procedure during the study period. Conclusions The findings of this study suggest that guided growth procedures might have a role in the correction of knee deformities in patients with CIP. However, the correction rate is lower than that of typically developing children, patients should be closely followed to prevent complications, and stringent patient selection criteria should be followed to ensure success.

scholarly journals Identification of a novel nonsense mutation of the neurotrophic tyrosine kinase receptor type 1 gene in two siblings with congenital insensitivity to pain with anhidrosis

2017 ◽  
Vol 45 (2) ◽  
pp. 549-555 ◽  
Author(s):  
Ting Wang ◽  
Haibo Li ◽  
Jingjing Xiang ◽  
Bin Wei ◽  
Qin Zhang ◽  
...  
Keyword(s):  
Tyrosine Kinase ◽  
Nonsense Mutation ◽  
Mutation Screening ◽  
Receptor Type ◽  
Tyrosine Kinase Receptor ◽  
Site Mutation ◽  
Congenital Insensitivity ◽  
Congenital Insensitivity To Pain ◽  
Insensitivity To Pain

Objective To explore the aetiology of congenital insensitivity to pain with anhidrosis (CIPA) in two Chinese siblings with typical CIPA symptoms including insensitivity to pain, inability to sweat, and self-mutilating behaviours. Methods Clinical examination and genetic testing were conducted of all available family members, and the findings were used to create a pedigree. Mutation screening using PCR amplification and DNA Sanger sequencing of the entire neurotrophic tyrosine kinase receptor type 1 gene ( NTRK1) including intron–exon boundaries was used to identify mutations associated with CIPA. Results A novel nonsense mutation (c.7C > T, p. Arg3Ter) and a known splice-site mutation (c.851-33 T > A) were detected in NTRK1 and shown to be associated with CIPA. Conclusion Our findings expand the known mutation spectrum of NTRK1 and provide insights into the aetiology of CIPA.

HEALING PATTERN OF INTERLOCKED INTRAMEDULLARY NAILED HUMERAL SHAFT FRACTURE

2016 ◽  
Vol 19 (04) ◽  
pp. 1650018
Author(s):  
Myung-Sang Moon ◽  
Dong-Hyeon Kim ◽  
Min-Geun Yoon ◽  
Sang-Yup Lee
Keyword(s):  
Bone Fractures ◽  
Weight Bearing ◽  
Shaft Fracture ◽  
Humeral Shaft Fracture ◽  
Humeral Shaft ◽  
Long Bone ◽  
Patients Âgés ◽  
Humeral Shaft Fractures ◽  
Shaft Fractures ◽  
Entry Points

Design: Study on the cases of the united interlocked intramedullary (IM) nailed humeral shaft fractures. Objective: To assess the healing pattern of nailed humeral shaft fracture and to compare it with the results of the other previous authors’ nail-treated large bone fractures. Background data: Based on the relevant previous studies related with healing patterns of the interlocked IM nail-managed humeral shaft fractures, the current age-matched study on the participating callus for union was conceived. The comparative study on the healing patterns between the fractures of non-weight-bearing long bone — the humerus — and other large weight-bearing long bones have never been carried out previously. Materials and methods: Eighty-nine cases of the humeral shaft fractures, fixated with antegrade interlocked IM standard Kuentscher nail were subjected to the study. The patients’ ages ranged from the late teens to 9th decade of life. For the antegrade nailing, two entry points were chosen; conventional entry point in the early series, and rotator cuff interval in the late series. Results: External callus was very rarely formed [12 cases (13.4%)]. It was formed at post-fixation 6.5 weeks on average in cases with unreduced displaced fragment, and proximal interlocking. Radiographic union occurred at post-fixation 17.6 weeks on an average by primary osteonal callus. Conclusion: It was concluded that in most cases union was obtained primarily by the contact or gap healing irrespective of the patients’ ages, and that periosteal participation was very rare or negligible. Use of smaller diameter nail or new development of less rigid IM nail without external nail shape change is thought desirable to induce periosteal callus in early healing stage.

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