Comparative study of the outcome of pediatric femur diaphyseal fractures treated with titanium elastic nails vs. compression plates

Background: A variety of methods have been described for the management of femur diaphyseal fractures in children between ages of 5 to 12 years. Some of the techniques include closed reduction and internal fixation (CRIF) with elastic nails, open reduction and internal fixation (ORIF) with compression plates, external fixators and skeletal traction with spica casting. This study was done to compare the outcome and complications of diaphyseal femur fractures in pediatric age treated with CRIF with Titanium elastic nails vs. ORIF with compression plates.Methods: The study was a prospective, clinical study.  A total of 60 patients were studied. 30 patients were treated with CRIF with titanium nails and 30 patients were treated with ORIF with compression plates. Every patient operated was followed up at 3 weeks, 6 weeks, 3 months, 6 months and 3 monthly thereafter until implant removal.Results: Only 1 wound healing complication was noted in the TENS nail group which was skin irritation at the site of pin insertion. In the compression plating group, 6 patients developed wound complications, including superficial infections, deep infections and keloids. The range of movements at knee joint in the two groups was compared.  Only 1 patient had a significant loss of flexion with ROM of less than 100 degrees in the TENS nail group. In the plating group 4 patients had a significant loss of flexion with ROM of less than 100 degrees. Limb length discrepancies were seen in 3 patients in the TENS nail group whereas the compression plating group showed 1 patient. 2 patients in the TENS group developed an angular deformity due to premature weight bearing.  3 patients in the compression plating group developed deformities at the fracture site. The average time for fracture union in the compression plate group was 10.7 weeks and was 14.7 weeks in the patients treated with TENS nail. Conclusions: No single fixation method can be considered superior in all types and patterns of pediatric diaphyseal femur fractures. Titanium elastic nails can be considered a better implant for treating pediatric femur fractures when compared to compression plates due to the lesser rates of surgical wound complications, better range of movements at knee joint and overall lesser complication rate as was recorded in this study

Management of congenital talipes equino varus using Ponseti method: 3 year follow up in 166 club feet

Background: Our aim was to study the effectiveness of Ponseti method using Pirani score in children with club foot treated over the past three years at our hospital.Methods: We studied 111 children with 166 idiopathic club feet who were treated at our teaching hospital between period of January 2012 and January 2017.The foot deformities were assessed using Pirani score at the time of first visit and the scores were recorded with each subsequent visit, with each casting and manipulation until correction of deformity. Tenotomy was performed on all the idiopathic club feet and continued with Steenbeek foot abduction brace (FAB) and the scores were recorded with every follow up and the progress was noted. All the relevant data in terms of treatment and demographics were recorded with dates and maintained.Results: Total of 166 feet of 111 children was treated out of which 72 were males and 39 were females. 55 children had bilateral involvement remaining were unilateral. Mean Pirani score was 5.5 (range 4-6) when the treatment was started. On an average 5.7 casts (range 3-9) were required before preforming a tenotomy. Tenotomy was performed on all the feet (100%) with idiopathic club foot. Foot abduction orthosis was given to all the patients and 108 patients (97.3%) were compliant. Mean Pirani score after three years of treatment was 0.26. Skin complications like blister formation were seen in three children during the course of the treatment. Four patients did not follow up and defaulted. Three patients had relapse or worsening of Pirani score. The recurrence or worsening of scores is thought to be due to poor compliance while using the foot abduction brace.Conclusions: Ponseti method of treatment for CTEV is very effective, simple, non-invasive and convenient with excellent outcomes over long term with no significant complications

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

The genetics of autosomal recessive intellectual disability (ARID) has mainly been studied in consanguineous families, however, founder populations may also be of interest to study intellectual disability (ID) and the contribution of ARID. Here, we used a genotype-driven approach to study the genetic landscape of ID in the founder population of Finland. A total of 39 families with syndromic and non-syndromic ID were analyzed using exome sequencing, which revealed a variant in a known ID gene in 27 families. Notably, 75% of these variants in known ID genes were de novo or suspected de novo (64% autosomal dominant; 11% X-linked) and 25% were inherited (14% autosomal recessive; 7% X-linked; and 4% autosomal dominant). A dual molecular diagnosis was suggested in two families (5%). Via additional analysis and molecular testing, we identified three cases with an abnormal molecular karyotype, including chr21q22.12q22.2 uniparental disomy with a mosaic interstitial 2.7 Mb deletion covering DYRK1A and KCNJ6. Overall, a pathogenic or likely pathogenic variant was identified in 64% (25/39) of the families. Last, we report an alternate inheritance model for 3 known ID genes (UBA7, DDX47, DHX58) and discuss potential candidate genes for ID, including SYPL1 and ERGIC3 with homozygous founder variants and de novo variants in POLR2F and DNAH3. In summary, similar to other European populations, de novo variants were the most common variants underlying ID in the studied Finnish population, with limited contribution of ARID to ID etiology, though mainly driven by founder and potential founder variation in the latter case.Peer reviewe

Rare Variant Enrichment analysis Supports

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by aplasia of the female reproductive tract; the syndrome can include renal anomalies, absence or dysgenesis, and skeletal anomalies. While functional models have elucidated several candidate genes, onl

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum comprising central nervous system (CNS) anomalies (7/12), combined CNS anomalies and congenital anomalies of the kidneys and urinary tract (CAKUT) (3/12) and CAKUT only (2/12). Computational simulation of the 3D protein structure suggests the position of the identified variants to be implicated in penetrance and phenotype expression. CELSR3 immunolocalization in human embryonic urinary tract and transient suppression and rescue experiments of Celsr3 in fluorescent zebrafish reporter lines further support an embryonic role of CELSR3 in CNS and urinary tract formation.</p

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum comprising central nervous system (CNS) anomalies (7/12), combined CNS anomalies and congenital anomalies of the kidneys and urinary tract (CAKUT) (3/12) and CAKUT only (2/12). Computational simulation of the 3D protein structure suggests the position of the identified variants to be implicated in penetrance and phenotype expression. CELSR3 immunolocalization in human embryonic urinary tract and transient suppression and rescue experiments of Celsr3 in fluorescent zebrafish reporter lines further support an embryonic role of CELSR3 in CNS and urinary tract formation.</p

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

The genetics of autosomal recessive intellectual disability (ARID) has mainly been studied in consanguineous families, however, founder populations may also be of interest to study intellectual disability (ID) and the contribution of ARID. Here, we used a genotype-driven approach to study the genetic landscape of ID in the founder population of Finland. A total of 39 families with syndromic and non-syndromic ID were analyzed using exome sequencing, which revealed a variant in a known ID gene in 27 families. Notably, 75% of these variants in known ID genes were de novo or suspected de novo (64% autosomal dominant; 11% X-linked) and 25% were inherited (14% autosomal recessive; 7% X-linked; and 4% autosomal dominant). A dual molecular diagnosis was suggested in two families (5%). Via additional analysis and molecular testing, we identified three cases with an abnormal molecular karyotype, including chr21q22.12q22.2 uniparental disomy with a mosaic interstitial 2.7 Mb deletion covering DYRK1A and KCNJ6. Overall, a pathogenic or likely pathogenic variant was identified in 64% (25/39) of the families. Last, we report an alternate inheritance model for 3 known ID genes (UBA7, DDX47, DHX58) and discuss potential candidate genes for ID, including SYPL1 and ERGIC3 with homozygous founder variants and de novo variants in POLR2F and DNAH3. In summary, similar to other European populations, de novo variants were the most common variants underlying ID in the studied Finnish population, with limited contribution of ARID to ID etiology, though mainly driven by founder and potential founder variation in the latter case