A novel Fryns "Anophthalmia-plus" syndrome associated with primary hypothyroidism

A novel Fryns "anophthalmla-plus" syndrome associated with primary hypothyroidism: Here, we report a newborn male with "anophthalmia-plus" syndrome and primary congenital hypothyroidism. To our knowledge this is the first case of 'anophthalmia-plus' syndrome associated with congenital hypothyroidism in the literature up to date.     

Operations on the adrenal glands

Various conditions of the adrenal gland are amenable to surgical treatment. Removal of a pheochromocytoma is almost always indicated when the tumor is diagnosed. The results of extirpation have been excellent in cases in which patients were operated upon before the onset of chronic hypertension. Removal of the "nerve cell" tumors of the adrenal is indicated if metastasis cannot be demonstrated. Hypofunction of the adrenal cortex may be partially alleviated by the repeated implantation of pellets of desoxycorticosterone acetate. Hyperfunction of the adrenal cortex causes a variety of clinical manifestations depending upon which of the numerous hormones are affected. Removal of a cortical tumor alleviates these symptoms. These tumors are malignant in more than 50 per cent of cases, and recurrence is frequent. Bilateral hyperplasia of the glands rather than a tumor may be present. In such circumstances, resection of 95 per cent of the adrenal tissue is effective in controlling the symptoms of the disease. Total bilateral excision of the adrenals is, at present, under investigation as a means of treatment for a variety of conditions.     

Fryns syndrome: another example of non-lethal outcome with severe mental handicap.

In this report we present clinical data of a patient with Fryns syndrome who survived the neonatal period. Two sibs died intra-uterine. The syndrome is characterized by craniofacial dysmorphism, diaphragmatic hernia and distal limb hypoplasia. Lethality in most cases is caused by the diaphragmatic hernia with concomitant lung hypoplasia. In patients with Fryns syndrome presenting without the diaphragmatic defect and lung-hypoplasia, survival beyond the neonatal period is possible; mental retardation is present in all four patients described so far. This report illustrates, once more, the great intrafamilial variation of the syndrome and emphasises its important consequences for genetic counseling and prenatal diagnosis.     

Alamethicin-evoked catecholamine release from cat adrenal glands

Alamethicin enhances the rate of catecholamine output from perfused cat adrenal glands in a concentration-dependent manner. At 37 degrees C, catecholamine released went from 4.29 +/- 0.25 to 20.51 +/- 0.63 micrograms/stimulus at ionophore concentrations ranging from 20 to 100 micrograms/ml. Secretion was abolished at 22 degrees C or in the absence of extracellular Ca. The time-course of secretion (quick activation followed by a decline) evoked by alamethicin considerably differs from the catecholamine release pattern seen with A23187, X537A or ionomycin, which evoke a slowly developing, non-inactivating secretory response. In fact, its transient secretion pattern resembles that of nicotinic or high-K stimulation of cat adrenal glands, thus suggesting that alamethicin might form Ca permeable artificial channels in chromaffin cell plasma membranes.     

Identification of dinucleoside polyphosphates in adrenal glands

Dinucleoside polyphosphates have been characterised as extracellular mediators controlling numerous physiological functions like vascular tone or cell proliferation. Here we describe the isolation and identification of dinucleoside polyphosphates Ap(n)A (with n=2-3), Ap(n)G (with n=2-6) as well as Gp(n)G (with n=2-6) from adrenal glands. These dinucleoside polyphosphates are localised in granules of the adrenal glands. The dinucleoside polyphosphates diadenosine diphosphate (Ap(2)A), diadenosine triphosphate (Ap(3)A), adenosine guanosine polyphosphates (Ap(n)G) and diguanosine polyphosphates (Gp(n)G), both with phosphate group (p) numbers (n) ranging from 2 to 6, were identified by fractionating them to homogeneity by preparative size-exclusion- and affinity-chromatography as well as analytical anion-exchange and reversed-phase-chromatography from deproteinised adrenal glands and by analysis of the homogeneous dinucleoside polyphosphates containing fractions with post-source-decay (PSD) matrix-assisted laser desorption/ionisation mass spectrometry (MALDI-MS). The identity of the dinucleoside polyphosphates was confirmed by retention time comparison with authentic dinucleoside polyphosphates. Enzymatic analysis demonstrated an interconnection of the phosphate groups with the adenosines in the 5(')-positions of the riboses in all dinucleoside polyphosphates purified from adrenal glands. In conclusion, the identification of these dinucleoside polyphosphates in adrenal gland granules emphasises that these dinucleoside polyphosphates can be released from the adrenal glands upon stimulation into the circulation.     

Amyloidosis in adrenal glands of hamsters experimentally infected with Leishmania infantum

Thirty 10-week-old hamsters were inoculated intraperitoneally with leishmania infantum amastigotes and were serially killed after 15, 30, 45, 60, 75 and 89-90 days. The adrenal glands of each of them were examined by means of light and electron microscopy. The cortex and medulla of the adrenal gland showed a progressive deposition of amyloid, selectively identified by both optical and ultrastructural techniques. It has been suggested that adrenal amyloidosis during visceral leishmaniasis is directly related to a stimulation of the phagocitary mononuclear system due to the persistence of the antigenic stimulation of the parasite. In addition to these deposits, the presence of inflammatory infiltrates containing lymphocytes, plasmocytes and macrophages with leishmanias confirmed the establishment of leishmaniasis. The deposition of the amyloid fibrils finally leads to the partial destruction of the adrenal parenchyma.     

Fryns syndrome with atypical findings--with large midline cleft on forehead but normal cranial MRI findings

We report a newborn with Fryns syndrome and atypical findings like a large midline cleft on forehead. Abnormal findings included congenital left diaphragmatic hernia, prominent forehead, hypertelorism, broad nasal bridge, anteverted nostrils, cleft palate, low set ears, tapered fingers, macrocephaly, congenital heart defect, midline defects and renal anomalies. This is the first case that has a midline cleft on forehead with normal cranial MRI findings.     

Wildervanck syndrome with hypoplastic frontal sinus: A rare case presentation

We report a case of Wildervanck syndrome exhibiting Klippel–Feil anomaly, Duane''s retraction syndrome and congenital deafness. Since the first case was reported in 1952, there have been more reports describing this triad either complete or incomplete. Our case has a complete triad of the syndrome along with frontal sinus hypoplasia. Our case is unique as the triad was associated with frontal sinus hypoplasia, which is very rare association.