Reliability of the disk damage likelihood scale

PURPOSE: To report the reliability of the glaucoma disk damage likelihood scale (DDLS) in comparison to the Armaly cup/disk ratio by determining the interobserver and intraobserver agreement for optic disk stereo photographs and the interobserver agreement for in vivo patient measurements of the optic disk. DESIGN: Observational case series. METHODS: Optic disk photographs: 48 stereo pairs of optic nerve photographs were selected from patients with a spectrum of glaucomatous visual field loss. Two masked observers graded the optic disk photographs three times according to the DDLS and Armaly cup/disk ratio. Interobserver and intraobserver agreements were calculated using the test-retest method. Patient measurements: three observers performed in vivo patient measurements on 34 eyes of glaucoma clinic patients and made a single determination of the DDLS stage and Armaly cup/disk ratio, based on the indirect biomicroscopic examination. Level of interobserver agreement was tabulated. RESULTS: Optic disk photographs: interobserver and intraobserver agreement for the vertical DDLS measurement was greater than for two determinations (clinical impression and measured) of the vertical Armaly cup/disk ratio (interobserver: 85% vs 68% and 74%, respectively; intraobserver grader 1: 97% vs 89% and 80%, grader 2: 99% vs 95% and 89%, respectively). In vivo patient measurements: the interobserver agreement for the DDLS and Armaly cup/disk ratio was similar (70.1% vs 67.6%, respectively). CONCLUSIONS: For the stereo optic disk photographs, the inter- and intra-observer agreement for the DDLS is greater than the Armaly cup/disk ratio. For the in vivo patient measurements, the level of agreement for the DDLS and the Armaly cup/disk ratio is similar.     

The risk of radiation-induced carcinogenesis after external beam radiotherapy of Graves' orbitopathy

PURPOSE: In order to estimate the risk of radiation-induced carcinogenesis after external beam radiotherapy of Graves' orbitopathy, we made dosimetric measurements with thermoluminescent dosimeters in a male Rando phantom using our treatment technique. METHODS: We produced dose-volume histograms from 5-mm CT slices using our treatment planning system. In this way we estimated the irradiation dose received by the main surrounding organs such as the brain, the bone and the eyeball. We use 6-MV X-ray for the treatment of Graves' orbitopathy and our total dose is 2,000 cGy, 200 cGy per fraction. Clinical target volume was limited to the retrobulbar orbital content and medial rectus muscle, sparing the lenses, lacrimal glands and the sella turcica. All dosimetric measurements with thermoluminescent dosimeters were made 3 times. RESULTS: We found that the dose to the right lens was 101.6 mGy and to left lens 103.4 mGy. Average absorbed doses to red bone marrow, thyroid, lung, esophagus, bone surface, skin and brain, respectively, were estimated to be 523, 21, 4, 5, 81, 29, 47 mGy. Then, using tissue weighting factors specified by the International Commission of Radiation Protection, the resulting total effective dose was calculated to be 66.8 mSv. CONCLUSION: The risk factor for fatal cancer development derived from human epidemiological data is presently assumed to be 10% per Gy. In patients treated by our method of retro-orbital external beam radiotherapy for Graves' orbitopathy, there is a 0.0067 (or 7 per 1,000 persons or 0.7%) risk of developing fatal radiation-induced cancer.     

Partial agenesis of the corpus callosum with partial seizures and bilateral congenital lacrimal duct atresia

Patients with partial agenesis of the corpus callosum can be readily detected by magnetic resonance imaging.     

Increased serum sialic acid levels in primary osteoarthritis and inactive rheumatoid arthritis

Accumulation of oxidized proteins and impaired antioxidant system have been shown to be associated with arthritis. Serum sialic acid (SA) is known as a parameter of inflammation. In the present study, to explore the potential role of SA in arthritis, we measured serum SA levels, plasma protein oxidation, and antioxidant status in patients with primary osteoarthritis (POA) and inactive rheumatoid arthritis (RA). Inactive RA (iRA) was defined upon the American College of Rheumatology criteria for clinical remission of RA. A total of 40 patients (20 POA patients, including 4 male subjects, and 20 iRA female patients) and 20 healthy female subjects were included in this study. SA, antioxidants, and protein oxidation levels were determined spectrophotometrically in serum or plasma samples. Serum SA levels were significantly increased in POA (3.34 +/- 0.37 mM, p < 0.0001) and iRA (3.11 +/- 0.47 mM, p < 0.05), compared with healthy controls (2.41 +/- 0.16 mM). Plasma total antioxidant activity, plasma superoxide dismutase activity and serum reduced glutathione levels were significantly decreased in patients with POA and those with iRA, whereas plasma carbonyl content and serum total protein were increased in those patients. Moreover, plasma total thiol levels were significantly increased in iRA and decreased in POA. Thus, increased SA and protein oxidation levels are associated with the decreased antioxidant levels in POA and iRA patients. These results suggest that SA may be considered as a potent defense molecule against oxidative damage in arthritis. Antioxidant therapy may halt or ameliorate the progression of arthritis.     

Primary antibody deficiencies in Turkey: molecular and clinical aspects

Primary antibody deficiencies (PAD) are the most common subtype of primary immunodeficiencies, characterized by increased susceptibility to infections and autoimmunity, allergy, or malignancy predisposition. PAD syndromes comprise of immune system genes highlighted the key role of B cell activation, proliferation, migration, somatic hypermutation, or isotype switching have a wide spectrum from agammaglobulinemia to selective Ig deficiency. In this study, we describe the molecular and the clinical aspects of fifty-two PAD patients. The most common symptoms of our cohort were upper and lower respiratory infections, bronchiectasis, diarrhea, and recurrent fever. Almost all patients (98%) had at least one of the symptoms like autoimmunity, lymphoproliferation, allergy, or gastrointestinal disease. A custom-made next-generation sequencing (NGS) panel, which contains 24 genes, was designed to identify well-known disease-causing variants in our cohort. We identified eight variants (15.4%) among 52 PAD patients. The variants mapped to BTK (n?=?4), CD40L (n?=?1), ICOS (n?=?1), IGHM (n?=?1), and TCF3 (n?=?1) genes. Three novel variants were described in the BTK (p.G414W), ICOS (p.G60*), and IGHM (p.S19*) genes. We performed Sanger sequencing to validate pathogenic variants and check for allelic segregation in the family. Targeted NGS panel sequencing can be beneficial as a suitable diagnostic modality for diagnosing well-known monogenic PAD diseases (only 2–10% of PADs); however, screening only the coding regions of the genome may not be adequately powered to solve the pathogenesis of PAD in all cases. Deciphering the regulatory regions of the genome and better understanding the epigenetic modifications will elucidate the molecular basis of complex PADs.

     

Correction to: Primary antibody deficiencies in Turkey: molecular and clinical aspects

Immunologic Research -     

A rare cause of refractory ascites in a child: familial Mediterranean fever

Familial Mediterranean fever (FMF) is hereditary episodic febrile syndrome characterized by acute attacks of fever and serosal inflammation, generally lasting 1–3 days and resolves spontaneously. Apart from abdominal pain, patients may present with variety of abdominal manifestations such as acute peritonitis, mechanical intestinal obstruction, diarrhea, bowel infarction, amyloidosis and small amounts of peritoneal fluid during the acute attacks. A 6-year-old boy was admitted with massive ascites. After extensive laboratory investigations, no causative agent could be identified. On subsequent days, he developed fever and skin eruptions. Acute-phase reactants were increased. A second tomography revealed cystic fluid collection near the anterior side of spleen that invades the stomach. An exploratory was performed and histopathological examination of the all resected specimens revealed mix inflammatory cell infiltrate associated with severe myofibroblast proliferation suggesting chronic inflammatory process on the mesenteric region. A diagnosis of FMF was suspected based on the clinical, laboratory and histopathological findings, and a trial of colchicine therapy initiated. Ascites and other serosal inflammations improved within 1 week without any recurrence during the next 12-month period on colchicine treatment. Atypical presentations of FMF have been increasingly reported. Pediatricians should keep FMF in mind in the differential diagnosis of massive ascites especially in regions where hereditary inflammatory disease are common.     

A pediatric case of anaphylaxis due to octreotide

Octreotide is an octapeptide that mimics natural somatostatin pharmacologically. It is a potent inhibitor of growth hormone, glucagon and insulin, which is used for treatment of acromegaly, symptomatic treatment of carsinoid tumours, and vasoactive intestinal peptide secreting tumors. It is also used for chylothorax, chemotherapy induced diarrhea and, as it inhibits the exocrine production of pancreatic enzymes, for acute and chronic pancreatitis. Gallbladder stones, diarrhea, nausea, vomiting, hypoglycemia/hyperglycemia, headache, and abdominal discomfort are some of the common adverse effects of octreotide and it may rarely cause anaphylaxis. We present here a child who had chronic pancreatitis and had an anaphylactic reaction to octreotide. To our knowledge this is the first pediatric case of anaphylaxis with octreotide who was successfully desensitized.