Notes

R869C mutation within molecular generator KIF17 gene can be involved in dementia together with Lewy bodies.
However, Japanese children had comparable waist circumference to stature ratio centile values to those of Dutch and Turkish children.

This study presents the first age-, sex-, and ethnicity-specific reference values for waist circumference and waist circumference to stature ratio in Japanese preschool children.
This study presents the first age-, sex-, and ethnicity-specific reference values for waist circumference and waist circumference to stature ratio in Japanese preschool children.
While growth charts depicting 7 percentile lines for height and weight are useful for healthcare workers and pediatricians, endocrinologists need indication-specific z score cutoffs to plan investigations and treatment. The current Indian charts do not offer lower percentile/z scores (-2.25,-2.5, and-3z score) lines. Also, increasing prevalence of childhood overweight and obesity necessitates a quick screening of nutritional status without calculations while using the same growth chart. Our objectives were to produce extended and user-friendly growth charts for 0-18-year-old Indian children that depict-2.25,-2.5, and-3z score height lines in addition to the standard 7 lines and to add a quick BMI assessment tool as an inset.

LMS values from IAP 2015 growth charts (5-18 years) and WHO 2006 MGRS charts (<5 years) were used to generate-2.25,-2.5, and-3z score height lines (1.2, 0.6, and 0.1 percentiles, respectively) from 0-18 year for boys and girls. These newly generated lines were added to standard 7 (3, 10, 25, 50, 75, 90, 97) percentile lines for height charts. In addition, modified BMI quick screening tool was incorporated as an inset.

The extended height charts (with 10 lines), standard (7 lines) weight charts, and quick BMI assessment tool are presented in a single unified chart for use by endocrinologists.

These charts will help in defining specific height z score cutoffs as well as screen for overweight and obesity without any calculations in Asian Indian children.
These charts will help in defining specific height z score cutoffs as well as screen for overweight and obesity without any calculations in Asian Indian children.
The efficacy of sodium phenylbutyrate (SPB) for hyperammonemia associated with congenital portosystemic shunt (CPSS) remains unknown. We show the effectiveness of oral SPB.

Our patient had CPSS with severe hypoplasia of extrahepatic portal veins. At 9months of age, to assess the efficacy of oral SPB, we evaluated the 24h fluctuations of venous ammonia levels. In the first two days without SPB, ammonia levels were above 80μmol/L for half a day. On the third and fourth days, administration of oral SPB three times a day decreased ammonia to acceptable levels, except at midnight. On the fifth day, another oral SPB administration at 8 pm decreased ammonia at midnight. Low levels of branched-chain amino acids, as well as coagulation disturbances, were observed without apparent symptoms. At 12months of age, he showed normal psychomotor development.

Oral SPB may be effective for hyperammonemia associated with CPSS.
Oral SPB may be effective for hyperammonemia associated with CPSS.
IgG4-related hypophysitis is a novel clinical disease entity, which is typically seen in the sixth decade of life and is typically complicated by hypopituitarism. We describe an adolescent female with IgG4-related hypophysitis with normal pituitary function and summarize the relevant literature.

A 11.8-year-old girl presented with headache and left VI cranial nerve palsy. MRI brain identified an enlarged pituitary gland. Endocrine investigations revealed normal pituitary function. She underwent a transsphenoidal biopsy of the pituitary gland, and histological examination confirmed the diagnosis of IgG4-related hypophysitis. Serum IgG4 concentrations were normal and no evidence of other organ involvement was found. Although the patient tested strongly positive for TB on an interferon gamma release assay, pituitary biopsy was negative for granuloma formation and acid-fast bacilli (Ziehl-Neelson staining). IgG4-related hypophysitis was treated with oral prednisolone and mycophenolate-mofetil with a good response.

We describe to the best of our knowledge, the youngest patient in the published literature with IgG4-related hypophysitis presenting without pituitary insufficiency. A literature review identified only five cases of IgG4-related hypophysitis in adolescence. Serum IgG4 concentrations were normal in all, except one of the adolescent patients reported so far, and appear unhelpful in diagnosis in this age group.
We describe to the best of our knowledge, the youngest patient in the published literature with IgG4-related hypophysitis presenting without pituitary insufficiency. A literature review identified only five cases of IgG4-related hypophysitis in adolescence. Serum IgG4 concentrations were normal in all, except one of the adolescent patients reported so far, and appear unhelpful in diagnosis in this age group.
Diagnostic errors are pervasive in medicine and most often caused by clinical reasoning failures. Clinical presentations characterized by nonspecific symptoms with broad differential diagnoses (e.g., dizziness) are especially prone to such errors.

We hypothesized that novice clinicians could achieve proficiency diagnosing dizziness by training with virtual patients (VPs). This was a prospective, quasi-experimental, pretest-posttest study (2019) at a single academic medical center. Internal medicine interns (intervention group) were compared to second/third year residents (control group). A case library of VPs with dizziness was developed from a clinical trial (AVERT-NCT02483429). The approach (VIPER- Virtual Interactive Practice to build Expertise using Real cases) consisted of brief lectures combined with 9h of supervised deliberate practice. Residents were provided dizziness-related reading and teaching modules. Both groups completed pretests and posttests.

For interns (n=22) vs. click here residents (n=18), preonal experiences such as VIPER across a broad range of common presentations could significantly enhance diagnostic education and translate to improved patient care.
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