Relationships of Basal Level of Serum 17-Hydroxyprogesterone with that of Serum Androstenedione and Their Stimulated Responses to a Low Dose of ACTH in Young Adult Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

A single measurement of serum 17α-hydroxyprogesterone (17OHP) level can be unreliable because of its marked diurnal variation. We investigated the relationship of serum level of 17OHP with that of androstenedione (AD), which shows a smaller diurnal variation. And we tested whether the responses of these two hormones to low-dose ACTH stimulation are correlated in patients with 21-hydroxylase deficiency. Baseline serum 17OHP and AD levels were measured in 87 patients and a low-dose ACTH stimulation test was performed in 41 patients. The basal 17OHP level correlated positively with the basal AD level independently of sex, type of 21-hydroxylase deficiency, and the time of day of blood sampling (n = 87, R2 = 0.75, P < 0.001). The area under the curve of 17OHP and AD correlated positively with their respective basal levels. The fold-change increase in 17OHP after ACTH injection correlated negatively with the basal 17OHP level, but that of AD did not correlate with the basal AD level. The random serum 17OHP level, used in the clinic, is a reliable guide and a low-dose ACTH stimulation test provides no extra benefit for assessing the treatment adequacy in patients with 21-hydroxylase deficiency

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme in purine metabolism. We delineate the genotypic and phenotypic spectrum of DEE 35, analyzing possible predictors for adverse clinical outcomes. We investigated a cohort of 28 new patients and reviewed previously described cases, providing a comprehensive characterization of 40 subjects. Exome sequencing was performed to identify underlying ITPA pathogenic variants. Brain MRI (magnetic resonance imaging) scans were systematically analyzed to delineate the neuroradiological spectrum. Survival curves according to the Kaplan–Meier method and log-rank test were used to investigate outcome predictors in different subgroups of patients. We identified 18 distinct ITPA pathogenic variants, including 14 novel variants, and two deletions. All subjects showed profound developmental delay, microcephaly, and refractory epilepsy followed by neurodevelopmental regression. Brain MRI revision revealed a recurrent pattern of delayed myelination and restricted diffusion of early myelinating structures. Congenital microcephaly and cardiac involvement were statistically significant novel clinical predictors of adverse outcomes. We refined the molecular, clinical, and neuroradiological characterization of ITPase deficiency, and identified new clinical predictors which may have a potentially important impact on diagnosis, counseling, and follow-up of affected individuals

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme in purine metabolism. We delineate the genotypic and phenotypic spectrum of DEE 35, analyzing possible predictors for adverse clinical outcomes. We investigated a cohort of 28 new patients and reviewed previously described cases, providing a comprehensive characterization of 40 subjects. Exome sequencing was performed to identify underlying ITPA pathogenic variants. Brain MRI (magnetic resonance imaging) scans were systematically analyzed to delineate the neuroradiological spectrum. Survival curves according to the Kaplan-Meier method and log-rank test were used to investigate outcome predictors in different subgroups of patients. We identified 18 distinct ITPA pathogenic variants, including 14 novel variants, and two deletions. All subjects showed profound developmental delay, microcephaly, and refractory epilepsy followed by neurodevelopmental regression. Brain MRI revision revealed a recurrent pattern of delayed myelination and restricted diffusion of early myelinating structures. Congenital microcephaly and cardiac involvement were statistically significant novel clinical predictors of adverse outcomes. We refined the molecular, clinical, and neuroradiological characterization of ITPase deficiency, and identified new clinical predictors which may have a potentially important impact on diagnosis, counseling, and follow-up of affected individuals

A preliminary study on tree clumps of Abies bornmulleriana Mattf. in North Anatolia

The research presented here demonstrates that in the fir forests on the northeast slopes of Ilgaz Mountain, Abies bornmulleriana Mattf forms tree clumps and that this is especially associated with extreme climatic conditions (Tab. 2). The structure, size and form of the tree clumps, the h/d(1.3) ratio of trees inside them, the spatial distribution of trees inside the clumps, the relationships between this and altitude and the effects of tree clumps on stability and vitality were considered (Tab. 2-4). It was indicated that the foremost characteristic of investigated tree clumps formation of firs is the stabilizing effects on the ecosystem (Tab. 3-4)

Effects of microsite conditions on Scots pine (Pinus sylvestris L.) seedlings in high-elevation plantings

The present paper provides practical advice on high elevation afforestation of Scots pine under the adverse environmental conditions of the low-subalpine elevational zone in the mountains of northern Anatolia. Research was focused in particular on the effects of microsite conditions on the growth of seedlings and on appropriate planting techniques for use in mountainous regions

Combining 'naturalness concepts' with close-to-nature silviculture

This paper summarizes key aspects of 'naturalness concepts' and their relationships to 'close-to-nature silviculture'. For perhaps 20-30 years, associated with concerns over apparently increasing biological and ecological problems (floods, avalanches, forest die-back, and other calamities) there has been an increasing debate in forestry centered on efforts to bring forest and woodland management back to more 'natural' approaches. Conservation and other management,in parallel to these arguments are flawed unless based on sound conceptual foundations, and to this end basic principles and concepts have been developed. 'Naturalness' is one such concept. However, whilst this is an important term in helping to understand the key processes at work it has proved difficult to integrate with ideas of 'close-to-nature silviculture'. This paper explores the issues and proposes more effective integration of approaches. Possible ways in which the concept can aid conservation management of woods and forests are suggested

Superior Mesenteric Artery-Duodenal Fistula Secondary to a Gunshot Wound

Arterioenteric fistulas are a rare cause of massive gastrointestinal hemorrhage. We present a patient who developed a fistula between a middle colic artery pseudoaneurysm, a proximal branch of the superior mesenteric artery (SMA), and the third part of the duodenum 2 weeks after a self-inflicted gunshot wound to the abdomen. The patient's presentation, evaluation, treatment, and prognosis are discussed. All prior published cases of SMA-duodenal fistulas are reviewed