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A prospective, comparative study was done over a period of 3 years to compare the complications and functional results of two treatment modalities of unstable intertrochanteric fractures of the femur in the elderly; i.e closed reduction and internal fixation (CRIF) with proximal femur nail (PFN) and primary cemented hemireplacement arthroplasty (HRA) with bipolar prosthesis. 100 elderly patients with unstable intertrochanteric fractures of femur were studied over a period of 3 years. 50 patients underwent CRIF with PFN and 50 patients were treated with primary cemented hemireplacement arthroplasty with bipolar prosthesis. Harris Hip score analysis revealed that the difference between the patients treated with cemented hemiarthroplasty and proximal femoral nailing was statistically significant in favour of the hemiarthroplasty group within the first 3 months. However, this difference diminished at the 6th month time point and reversed at the 12 month time point indicating a better functional outcome of Proximal Femur Nail in the long term. Although cemented hemireplacement arthhroplasty allows early pain free mobilization and has a good short term outcome, over time it is associated with a variety of complications which significantly affects quality of life of patients. On the other hand, although patients treated with PFN had delayed post op mobilization, they had better results when followed up at 1 year post surgery.

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Mayer-Rokitansky-Ku ¨ster-Hauser syndrome (MRKHS) is associated with congenital absence of the uterus, cervix, and the upper part of the vagina; it is a sex-limited trait. Disrupted development of the Mu ¨llerian ducts (MD)/Wo ¨lffian ducts (WD) through multifactorial mechanisms has been proposed to underlie MRKHS. In this study, exome sequencing (ES) was performed on a Chinese discovery cohort (442 affected subjects and 941 female control subjects) and a replication MRKHS cohort (150 affected subjects of mixed ethnicity from North America, South America, and Europe). Phenotypic follow-up of the female reproductive system was performed on an additional cohort of PAX8-associated congenital hypothyroidism (CH) (n ¼ 5, Chinese). By analyzing 19 candidate genes essential for MD/WD development, we identified 12 likely gene-disrupting (LGD) variants in 7 genes:, and WNT9B (n ¼ 1), while LGD variants in these genes were not detected in control samples (p ¼ 1.27EÀ06). Interestingly, a sex-limited penetrance with paternal inheritance was observed in multiple families. One additional PAX8 LGD variant from the replication cohort and two missense variants from both cohorts were revealed to cause loss-of-function of the protein. From the PAX8-associated CH cohort, we identified one individual presenting a syndromic condition characterized by CH and MRKHS (CH-MRKHS). Our study demonstrates the comprehensive utilization of knowledge from developmental biology toward elucidating genetic perturbations, i.e., rare pathogenic alleles involving the same loci, contributing to human birth defects.Mayer-Rokitansky-Ku ¨ster-Hauser syndrome (MRKHS [MIM: 277000]), also referred to as Mu ¨llerian aplasia, is characterized by congenital absence of the uterus, cervix, and upper part of the vagina in females with a normal karyotype (46, XX). 1 With an incidence of 1 in 4,500-5,000 newborn females, MRKHS is the second most common cause of primary amenorrhea after gonadal dysgenesis. 2 MRKHS is further divided into MRKHS type I (isolated) and MRKHS type II (syndromic) according to the presence of multi-organ involvement. 3 Formation and morphogenesis of the Mu ¨llerian ducts take place during weeks 5-6 of human embryogenesis