Lenz microphthalmia syndrome is a rare X-linked recessive condition first described by Lenz in 1955 and comprises of anophthalmia, microcephaly, mental retardation, external ear, digital, cardiac, skeletal, and urogenital anomalies. We present three brothers (ages 15 years, 9 years, and 18 months) and a maternal uncle (age 27 years) with congenital anophthalmia, delayed motor development, hypotonia, and moderate to severe mental retardation. They also have abnormally modeled ears, high-arched palate, pectus excavatum, finger and toe syndactyly, clinodactyly, fetal pads, scoliosis, cardiac, and renal abnormalities. An obligate carrier had abnormally modeled ears and syndactyly of the 2nd to 3rd toes bilaterally. Linkage and haplotype analysis in this family indicates that the gene is located in a 17.65-cM region on chromosome region Xq27-Xq28.

Lenz syndrome is a rare X-linked recessive syndrome first described by Lenz in 1955. Clinical features include anophthalmia, microcephaly, mental retardation, cardiac, skeletal, urogenital, external ear, and digital, anomalies. We present three brothers (ages 15 years, 9 years, and 18 months) and a maternal uncle (age 27 years) with congenital anophthalmia, hypotonia and moderate to severe mental retardation. Dysmorphic features include dysplastic ears, high arched palate, pectus excavatum, finger and toe syndactyly, clinodactyly and fetal pads. Other features include scoliosis, cardiac and renal abnormalities. Obligate carriers have a history of recurrent spontaneous losses. One carrier has dysplastic ears and syndactyly of the 2-3rd toes bilaterally; features which may be helpful in identification. Fourteen previously reported cases were additionally reviewed. Mental retardation was present in 100%, 93% had growth retardation, 69% had microcephaly, 88% had ear anomalies, 76% had dental anomalies, 12% had a congenital heart defect, 50% had a urogenital anomaly, 47% had a spinal deformity and 69% had anomalies of the fingers or toes. Linkage and haplotype analysis in this family indicates that the gene is located in a 17.65 cM region on chromosome Xq27-Xq28 flanked by microsatellite markers DXS1232 and DXS8043. This region overlaps the anopthalmos locus ANOP1, but excludes the OCRL locus for Lowe oculocerbrorenal syndrome. Candidate genes involved in neuronal development that map to this critical interval include CXORF1 and KIAA0006. This is the first report of linkage analysis in Lenz microphthalmia a unique disorder associated with mental retardation and multiple anomalies.

Lenz syndrome is a rare X-linked recessive syndrome first described by Lenz in 1955. Clinical features include anophthalmos or microphthalmos, microcephaly, mental retardation, external ear, digital, cardiac, skeletal, and urogenital anomalies (Traboulsi, et al 1988). Graham, et al (1991) localized the gene to Xq27-Xq28 in a Northern Ireland family with X-linked anophthalmos. However, the affected members in this family lacked digital, cardiac, and urogenital anomalies typically seen in Lenz syndrome. We present three brothers (ages 15 years, 9 years, and 18 months) and a maternal uncle (age 27 years) with Lenz syndrome. All four males have congenital anophthalmos with absence of the globes, optic nerve, and optic chiasm, and the youngest male has unilateral microphthalmos with corneal sclerosis. Delayed milestones and moderate to severe mental retardation were evident in the four males, and three of them have behavior problems. On physical examination, a high arched palate, pectus excavatum, finger and toe syndactyly and clinodactyly, fetal pads on all fingers and toes, and decreased muscle tone were noted in all four males. Scoliosis and outer ear anomalies were noted in three of the four males. The oldest brother has dilated left atrium of the heart and duplicated renal system, and the maternal uncle has right ventricular hypertrophy. An obligate carrier was noted to have syndactyly of the 2-3rdtoes bilaterally and dysplastic ears. We believe this family will add to the spectrum of clinical features of Lenz syndrome. Many of the cases published to date for Lenz syndrome are isolated reports. Linkage analysis in this family is in progress to identify the gene responsible for Lenz syndrome.

To compare the clinico-pathologic prognostic factors and survival of younger vs older women diagnosed with epithelial ovarian cancer. Demographic, clinico-pathologic, treatment, and surgery information were obtained from patients with ovarian cancer from the Surveillance, Epidemiology, and End Results Program from 1988 to 2001 and analysed using Kaplan-Meier estimates. Of 28 165 patients, 400 were <30 years (very young), 11 601 were 30-60 (young), and 16 164 were >60 (older) years of age. Of the very young, young, and older patients, 261 (65.3%), 4664 (40.2%), and 3643 (22.5%) had stage I-II disease, respectively (P<0.001). Across all stages, very young women had a significant survival advantage over the young and older groups with 5-year disease-specific survival estimates at 78.8% vs 58.8 and 35.3%, respectively (P<0.001). This survival difference between the age groups persists even after adjusting for race, stage, grade, and surgical treatment. Reproductive age (16-40 years) women with stage I-II epithelial ovarian cancer who received uterine-sparing procedures had similar survivals compared to those who underwent standard surgery (93.3% vs 91.5%, P=0.26). Younger women with epithelial ovarian cancer have a survival advantage compared to older patients.

The aim of the study is to determine the role of lymphadenectomy in advanced epithelial ovarian cancer. The data were obtained from the Surveillance, Epidemiology and End Results (SEER) program reported between 1988 and 2001. Kaplan-Meier estimates and Cox proportional hazards regression models were used for analysis. Of 13 918 women with stage III-IV epithelial ovarian cancer (median age: 64 years), 87.9% were Caucasian, 5.6% African Americans, and 4.4% Asians. A total of 4260 (30.6%) underwent lymph node dissections with a median number of six nodes reported. For all patients, a more extensive lymph node dissection (0, 1, 2-5, 6-10, 11-20, and >20 nodes) was associated with an improved 5-year disease-specific survival of 26.1, 35.2, 42.6, 48.4, 47.5, and 47.8%, respectively (P<0.001). Of the stage IIIC patients with nodal metastases, the extent of nodal resection (1, 2-5, 6-10, 11-20, and >20 nodes) was associated with improved survivals of 36.9, 45.0, 47.8, 48.7, and 51.1%, respectively (P=0.023). On multivariate analysis, the extent of lymph node dissection and number of positive nodes were significant independent prognosticators after adjusting for age, year at diagnosis, stage, and grade of disease. The extent of lymphadenectomy is associated with an improved disease-specific survival of women with advanced epithelial ovarian cancer.

Exposure to persistent organic pollutants (POPs) can significantly impact marine mammal health, reproduction, and fitness. This study addresses a significant 20-year gap in gray whale contaminant monitoring through analysis of POPs in 120 blubber biopsies. The scope of this substantial sample set is noteworthy in its range and diversity with collection between 2003 and 2017 along North Americas west coast and across diverse sex, age, and reproductive parameters, including paired mothers and calves. Mean blubber concentrations of polychlorinated biphenyls (∑PCBs), dichlorodiphenyltrichloroethanes (∑DDTs), and chlordanes (∑CHLs) generally decreased since previous reports (1968-1999). This is the first report of polybrominated diphenyl ethers (PBDEs) and select hexachlorocyclohexanes (HCHs) in this species. Statistical modeling of the 19 most frequently detected compounds in this dataset revealed sex-, age-, and reproductive status-related patterns, predominantly attributed to maternal offloading. Mean POP concentrations differed significantly by sex in adults (17 compounds, up to 3-fold higher in males) but not in immatures (all 19 compounds). Mean POP concentrations were significantly greater in adults versus immatures in both males (17 compounds, up to 12-fold) and females (13 compounds, up to 3-fold). POP concentrations were detected with compound-specific patterns in nursing calves, confirming maternal offloading for the first time in this species.

Twentieth century industrial whaling pushed several species to the brink of extinction, with fin whales being the most impacted. However, a small, resident population in the Gulf of California was not targeted by whaling. Here, we analyzed 50 whole-genomes from the Eastern North Pacific (ENP) and Gulf of California (GOC) fin whale populations to investigate their demographic history and the genomic effects of natural and human-induced bottlenecks. We show that the two populations diverged ~16,000 years ago, after which the ENP population expanded and then suffered a 99% reduction in effective size during the whaling period. In contrast, the GOC population remained small and isolated, receiving less than one migrant per generation. However, this low level of migration has been crucial for maintaining its viability. Our study exposes the severity of whaling, emphasizes the importance of migration, and demonstrates the use of genome-based analyses and simulations to inform conservation strategies.