Dysmorphology diagnosis

A patient with multiple malformations poses a diagnostic dilemma to the pediatrician. There are thousands of malformation syndromes described and diagnosis of a syndrome appears a daunting task. An approach to diagnosis of a malformation syndrome is presented. Relevant details in the history and examination, important investigations, the process of differential diagnosis, and search engines used to aid in diagnosis of a malformation syndrome are described     

Neonatal lupus mimicking extra hepatic biliary atresia

Neonatal Lupus Erythematosus (NLE) is an uncommon condition manifesting with congenital complete heart block and occasionally other manifestations like hepatitis. Neonatal Lupus with severe cholestasis with positive anti SS-A/Ro and anti SS-B/La antinuclear antibodies in the mother and child is being reported.     

Surgical emphysema: a rare presentation of foreign body inhalation

An 11-year-old girl with an almond lodging in the tracheobronchial tree is described. She presented with an uncommon symptom of subcutaneous emphysema The x-ray revealed left-sided pneumothorax and pneumomediastinum. Intercostal drain was inserted, but she developed respiratory failure and was ventilated. After initial stabilization for 60 hours, she deteriorated again and her x-ray revealed right-sided collapse. After removal of the foreign body, she was discharged but presented again with stridor necessitating tracheostomy. Tracheal stenosis was found and required end-to-end anastomosis. The authors feel that, while foreign bodies are uncommon in this age group with emphysema as a rarer manifestation, this cause should be kept in mind, even in the absence of forthcoming history. A high index of suspicion for tracheobronchial foreign body is required in atypical presentations of acute pediatric respiratory distress.     

Increased expression of EGFR and TGF-α in segmental renal dysplasia in duplex kidney

Renal dysplasia (RD) is a disorganised development of renal parenchyma that results in a deficit of functional renal tissue. It is known that the epidermal growth factor (EGF) and the transforming growth factor- (TGF-) enhance renal cell proliferation, migration and differentiation during kidney development through binding to the same EGF receptor (EGFR). The aim of the study was to analyse the expression of TGF- and EGFR in the dysplastic kidney. The specimens of dysplstic upper poles duplex kidneys were surgically resected from 19 patients. Indirect immunohistochemistry was performed using the ABC method employing antibodies against EGFR and TGF-, and gene expression using primers specific to the human genes. There was absent or weak EGFR and TGF- immunoreactivity in normal kidney tissue. In dysplastic kidneys, there was strong TGF- and EGFR immunoreactivity in the epithelium of primitive tubules and strong EGFR immunoreactivity in the connective tissue around the primitive tubules. Our findings of markedly increased local expression of EGFR and TGF- in primitive tubules suggest that EGFR and TGF- may play an important role in altering renal morphogenesis resulting in renal dysplasia.     

Influence of fatigue loading on the performance of adhesive and nonadhesive luting cements for cast post-and-core buildups in maxillary premolars

PURPOSE: This study evaluated the influence of fatigue loading on the performance of an adhesive and a nonadhesive cement for cast post-and-core restorations in maxillary premolars. MATERIALS AND METHODS: The adhesive cement used was Panavia 21, a resin-based composite cement, and the nonadhesive cement was PhosphaCem/C, a zinc-oxy-phosphate cement. The coronal sections of single-rooted human maxillary premolars were removed at the level of the proximal CEJ. After endodontic treatment, a cast post and core was prepared for each tooth and cemented into the root canal with either Panavia 21 (n = 8) or PhosphaCem/C (n = 8). Half of the specimens from each cement group were exposed to fatigue loading almost perpendicular to the axial axis; the other half were used as controls. Three parallel transverse root sections were cut from each specimen and used for evaluation of the influence of fatigue loading. For each section, cement integrity was studied by SEM, and retention strength of the cemented post section was determined with a push-out test. RESULTS: For SEM evaluation and the push-out test, Panavia 21 proved significantly better than PhosphaCem/C. However, fatigue loading did not show any effect. CONCLUSION: Under the conditions of this study, fatiguing of cemented cast post-and-core restorations was not decisive as a single test to evaluate the quality of the cement.     

In vitro 1H-magnetic resonance spectroscopy of Barrett's esophageal mucosa using magic angle spinning techniques

OBJECTIVES: In vitro proton magnetic resonance spectroscopy (MRS) allows changes in cell membrane lipid structure associated with dysplasia and malignant transformation to be investigated. Magic angle spinning (MAS) MRS allows small esophageal tissue specimens to be studied directly without the need to extract the tissue, but it is not known how intact the tissue architecture remains after MAS. We report the first prospective MAS MRS study of Barrett's esophagus using endoscopic biopsies with direct histological correlation. METHODS: Biopsies were obtained during surveillance esophagoscopy from Barrett's epithelium and adjacent normal squamous epithelium in 16 patients (34 samples). High-resolution MAS MRS was performed at 500 MHz. Following MRS, the histology was evaluated. A further, separate group of 14 biopsies were examined histologically to assess architectural damage caused by tissue preservation alone. RESULTS: For squamous and Barrett's epithelium, respectively, metabolite ratios of choline-containing compounds to creatine plus phosphocreatine (Cho/Cr) were 1.99 and 5.65 (P < 10) and methyl lipid to creatine plus phosphocreatine ratios (lipid-CH3/Cr) were 4.07 and 7.4 (P < 10). There was no significant difference in histological preservation between the squamous and Barrett's mucosa without MRS (z = 0.67, P = 0.61), but significant differences were found post-MAS MRS (z = 4.06, P < 0.0001). CONCLUSIONS: Squamous and Barrett's epithelium can be distinguished metabolically, based on Cho/Cr and lipid-CH3/Cr ratios. Although MAS does affect the histological architecture in Barrett's epithelium, compared with squamous epithelium, direct histological assessment was possible in the majority of samples.     

Radiation retinopathy after fractionated stereotactic radiotherapy for optic nerve sheath meningioma

PURPOSE: To report a patient with radiation retinopathy after fractionated stereotactic radiotherapy for treatment of optic nerve sheath meningioma (ONSM). DESIGN: Interventional case report. METHODS: The clinical presentation, radiation treatment, and subsequent visual complications of a patient with ONSM are described. MAIN OUTCOME MEASURES: Development of radiation retinopathy and Snellen visual acuity. RESULTS: A 36-year-old man presented with a left optic neuropathy. Magnetic resonance imaging studies showed abnormalities consistent with ONSM. Because of progressive vision loss, the patient underwent fractionated stereotactic radiotherapy for the lesion. Vision initially improved after treatment, but 22 months later, retinal abnormalities consistent with radiation retinopathy were noted in the left eye. Visual acuity worsened over the next 24 months in association with the development of retinal hemorrhages, lipid, and retinal edema predominantly within the nasal portion of the posterior pole. Fluorescein angiography showed edema associated with microaneurysms, retinal telangiectasia, and capillary nonperfusion. Laser photocoagulation was performed on several occasions in areas of microaneurysms and retinal telangiectasia; however, the retinal edema and lipid remained, associated with persistent decreased vision. CONCLUSIONS: Radiation retinopathy and vision loss may occur after fractionated stereotactic radiotherapy for ONSM and should be discussed as a potential complication.