Neonatal diabetes mellitus (NDM) is a rare form of diabetes. We analyzed a novel insulin gene (INS) mutation of a Chinese permanent neonatal diabetes mellitus (PNDM) patient to explore the clinical and genetic characteristics and put forward some opinions on treatment and its long-term management.
A proband was recruited who was diagnosed with permanent neonatal diabetes on his first day after birth. His clinical and follow-up data were collected for 10 years. All of the family members were given an oral glucose tolerance test. Whole exome sequencing was performed on the proband, and the genomic DNA of family members was used for verification by first-generation Sanger sequencing technology. The pathogenic variant was screened according to the American College of Medical Genetics and Genomics classification guidelines and the clinical phenotype of the patient.
The proband was diagnosed on the first day after birth, presenting with low birth weight, progressive hyperglycemia, and insulin deficiency. His parents and grandfathers were confirmed to have normal blood sugar levels. A novel homozygous mutation of c.1T>C in the INS gene was detected in the proband, located in the initiation codon. The heterozygous mutations were found in four family members, including his mother, father, and grandfathers. With regular insulin injections, long-term regular follow-up, close monitoring of blood glucose, balanced exercise and diet, and psychological and mutual family support, the blood glucose level was well controlled; there were no acute or chronic complications during this decade. The patient\'s growth and nervous system development are now no different to those of the same age.
A favorable prognosis is presented for a permanent neonatal diabetes mellitus (PNDM) patient with a novel mutation in the INS gene in China. The present findings indicate that the genetic diagnosis, early use of insulin, close monitoring of blood glucose, and psychological and mutual family support for patients with INS mutation are necessary for their favorable long-term prognosis.

Head tilt associated with infantile nystagmus syndrome (INS) can be corrected by (a) operating the oblique muscles, (b) horizontally transposing the vertical rectus muscles, or (c) vertically transposing the horizontal rectus muscles. We report three cases of INS with head tilt corrected by vertically transposing the horizontal rectus muscles in both the eyes.
Three cases of head tilt with INS from an institutional practice operated by a single surgeon were retrospectively reviewed and analyzed. The intervention included full tendon width transposition (upward or downward) of all four horizontal rectus muscles to induce cyclotorsion in the direction of head tilt. The primary outcome measure was the correction of head tilt in the primary position.
Three patients (boys) of ages ranging from 4 to 7 years with a pre-operative head tilt of 30° were operated upon. Although one patient\'s oblique muscles had been operated on to correct head tilt, another patient had an unmasked face turn after the surgery, which was corrected with a modified Anderson\'s procedure. Post-operatively, all patients had a reduction of head tilt to a range of 0-10°.
Vertical transposition of horizontal rectus muscles is a simple surgical option to correct head tilt in INS. However, the results may vary based on individual cases.

Management of head tilt in infantile nystagmus syndrome (INS) is a challenge. In this case report, we have described successful management of right-sided head tilt in a child with INS by operating on three oblique muscles (superior oblique anterior tenectomy in the right eye, Harada-Ito procedure in the left eye, and inferior oblique recession in the left eye). The child had complete correction of head tilt without causing any cyclovertical strabismus or torsional diplopia postoperatively.

Genetic contributions towards Type 2 diabetes (T2D) have been assessed through association studies across different world populations with inconsistencies. The majority of the T2D susceptibility loci are common across different races or populations but show ethnicity-specific differences. The pathogenesis of T2D involves genetic variants in the candidate genes. The interactions between the genes involved in insulin signaling and secretory pathways are believed to play an important role in determining an individual\'s susceptibility towards T2D. Therefore, the present study was initiated to examine the differences, if any, in the contribution of polymorphisms towards T2D susceptibility in the background of different ethnic specifications. The present case-control study included a total of 1216 T2D cases and healthy controls from three ethnic groups (Jat Sikhs, Banias and Brahmins) of North-West India. Polymorphisms were selected on the basis of information available in the literature for INS (rs689), INSR (rs1799816) and PP1G.G (rs1799999) in context to T2D. The genotyping was done using PCR-RFLP method. Statistical analysis was done using SPSS 16.0. The analyses revealed that INS (rs689) polymorphism conferred risk towards T2D susceptibility in all the three ethnic groups whereas INSR (rs1799816) polymorphism conferred risk towards T2D in Brahmins only and PP1G.G (rs1799999) polymorphism indicated T2D risk in Jat Sikhs only. Furthermore, interaction analyses indicated the cumulative role of three genetic variants in modulating T2D susceptibility in the three ethnic groups. In conclusion, our results substantiated the evidences for the role of ethnicity in differential susceptibility to T2D in the background of same genetic variants.