Incontinentia pigmenti and X-autosome translocations

Summary Incontinentia pigmenti (IP) is a rare X-linked disease with marked female-to-female transmission and a dominant pattern of inheritance. Reports of six unrelated females with IP and X-autosomal translocations, all with the X breakpoint at Xp11, and an additional report of a female with IP and a 45,X/46,X,r(X) karyotype suggests that this may be the locus for the IP gene. When four of these cases, including the r(X), were re-examined with a non-isotopic in situ hybridization technique and an X centromere-specific probe (pSV2X5), the Xp11 breakpoint was confirmed. However, results from a fifth reported case, t(X;17), showed that the X breakpoint was within the centromeric alphoid repetitive sequences recognized by the probe pSV2X5. As the clinical presentation of this patient was consitent with the IP phenotype and diagnosis, the centromeric position of the X-chromosome breakpoint raises several questions with respect to the homogeneity of the Xp11 locus for IP.     

Paracoccidioidomycosis: Study of six cases with ocular involvement

We present 6 patients with ocular involvement due to paracoccidioidomycosis. All cases were confirmed by the finding of Paracoccidioides brasiliensis in histopathological or direct mycologic examination of material from the lesion in the eyelid or conjunctiva. In two cases the bulbar conjunctiva was also involved, in another the cornea, and still another patient developed endophthalmitis. The presence of this mutilating disease which may lead to blindness should be suspected when chronic blepharitis or palpebral ulcerated papular lesions are detected in patients from endemic areas of paracoccidioidomycosis. This etiology should also be suspected in patients with anterior and posterior uveitis after discarding the most frequent causes of this condition.     

Incontinentia pigmenti (type 1) and X;5 translocation.

The authors present a 5-year-old girl with total absence of speech, dysmorphic features, pigmented lesions on the legs, an abnormal EEG and otherwise normal intelligence representing a mild form of type 1 Incontinentia pigmenti associated with an (X;5) (p11.2;q35.2) apparently balanced translocation prenatally diagnosed. The seven previous translocation type 1 IP patients are reviewed and all have the same Xp11 breakpoint. Somatic cell hybrids have been made to further study this breakpoint and further define the putative type 1 IP gene.     

Dermatoglyphic peculiarities in patients with hypomelanosis of Ito (Incontinentia pigmenti achromians). A new case

We have analyzed the dermatoglyphic aspects of a patient affected by hypomelanosis of Ito (Incontinentia pigmenti achromians — HI) and of his healthy mother, and have compared our findings with those of the only three other cases in whom such studies had been done. It appeared that hypomelanosis of Ito shows anomalous dermatoglyphic peculiarities: a larger number of ulnar loops and the frequent absence of patterns in thenar, II and III interdigital areas. However, the absence of some interdigital triradii, particularly of d triradius, seems to be the most distinctive character. Since the timing of embryonal life during which d triradius should be formed is between 16 and 17 weeks, it seems highly probable that some developmental abnormality might occur at this point in HI. Moreover, the present analysis allows to support some hypotheses already proposed in the literature, concerning the modalities of determination of the absence of d triradius. The observed concomitance with some dermatoglyphic findings, such as the absence of other palmar triradii and the absence of interdigital patterns, led us to suggest that such characteristics could be connected each other, having perhaps a common genetical basis or undergoing the same microenvironmental effects.     

Tubercular involvement of the thyroid gland: a report of two cases

Thyroid tuberculosis is rare. In the last decade, however, the incidence of extrapulmonary forms of tuberculosis has increased. We report on 2 cases of thyroid tuberculosis. In case 1, a tubercular abscess mimicking acute thyroiditis was found which was correctly diagnosed by fine-needle aspiration biopsy (FNAb). No evidence of active disease was noticed. Pleural thickening on chest X-ray was the only sign compatible with a previous infection. In case 2, tubercular thyroiditis with lymph node enlargement was also diagnosed by FNAb in a reevaluation setting. In both cases treatment with antitubercular drugs resulted in complete recovery. Thyroid tuberculosis should be kept in mind in the differential diagnosis of thyroid nodules, notably in patients with a history of tuberculous disease. FNAb represents the main approach to making the diagnosis.     

Two cases of X/autosome translocation in females with incontinentia pigmenti

Summary We report two unrelated girls who present some clinical features of severe incontinentia pigmenti (IP), with characteristic skin pigmentation. Both have balanced de novo X/autosome translocations involving band Xp11. The coincidence of the probable de novo expression of an X-linked disorder in these two girls with translocations involving similar breakpoints on the X chromosome suggests that this band may be the site of the IP gene locus.     

Incontinentia pigmenti: Xp breakpoint is not the same in a case of r(X) and in X/autosome translocations

X-specific DNA probes were used to characterize the r(X) of a 45,X/46,X,r(X) female patient with Incontinentia pigmenti. It was found to be of maternal origin. Breakpoints were shown to be in or distal to p11.22 and between q12.2 and q13.1. When considering all known cases of Incontinentia pigmenti and X rearrangements at least four different break sites on the X have been shown.     

Incontinentia pigmenti (IP) and r(X). Tentative mapping of the IP locus to the X juxtacentromeric region

A 45,X/46,X,r(X) mosaicism was observed in an incontinentia pigmenti (Bloch-Sulzberger form) female patient, with mental retardation, short stature, and minor dysmorphisms. This observation is compatible with the regional assignment of the incontinentia pigmenti locus to the juxta-centromeric region of the X, the r(X) being of very small size.     

Potassium channel and NKCC cotransporter involvement in ocular refractive control mechanisms

Myopia affects well over 30% of adult humans globally. However, the underlying physiological mechanism is little understood. This study tested the hypothesis that ocular growth and refractive compensation to optical defocus can be controlled by manipulation of potassium and chloride ion-driven transretinal fluid movements to the choroid. Chicks were raised with +/-10D or zero power optical defocus rendering the focal plane of the eye in front of, behind, or at the level of the retinal photoreceptors respectively. Intravitreal injections of barium chloride, a non-specific inhibitor of potassium channels in the retina and RPE or bumetanide, a selective inhibitor of the sodium-potassium-chloride cotransporter were made, targeting fluid control mechanisms. Comparison of refractive compensation to 5 mM Ba(2+) and 10(-5) M bumetanide compared with control saline injected eyes shows significant change for both positive and negative lens defocus for Ba(2+) but significant change only for negative lens defocus with bumetanide (Rx(SAL)(-10D) = -8.6 +/- .9 D; Rx(Ba2+)(-10D) = -2.9 +/- .9 D; Rx(Bum)(-10D) = -2.9 +/- .9 D; Rx(SAL)(+10D) = +8.2 +/- .9 D; Rx(Ba2+)(+10D) = +2.8 +/- 1.3 D; Rx(Bum)(+10D) = +8.0 +/- .7 D). Vitreous chamber depths showed a main effect for drug conditions with less depth change in response to defocus shown for Ba(2+) relative to Saline, while bumetanide injected eyes showed a trend to increased depth without a significant interaction with applied defocus. The results indicate that both K channels and the NKCC cotransporter play a role in refractive compensation with NKCC blockade showing far more specificity for negative, compared with positive, lens defocus. Probable sites of action relevant to refractive control include the apical retinal pigment epithelium membrane and the photoreceptor/ON bipolar synapse. The similarities between the biometric effects of NKCC inhibition and biometric reports of the blockade of the retinal ON response, suggest a possible common mechanism. The selective inhibition of refractive compensation to negative lens in chick by loop diuretics such as bumetanide suggests that these drugs may be effective in the therapeutic management of human myopia.     

Renal tubular dysgenesis with hypoplastic calvaria: report of two cases

Renal tubular dysgenesis (RTD), a rare, lethal, autosomal recessive disorder, is characterized by short and poorly differentiated proximal tubules and associated with hypoplastic calvaria. We report two cases of RTD with hypoplasia of the calvaria. Microscopically, proximal tubules in the kidneys were not seen on routine H&E stain. Almost all tubules in the cortex were stained for epithelial membrane antigen (EMA), confirming the absence of proximal tubule differentiation. The autopsy findings, microscopic features and the etiology of this rare condition is discussed and compared with literature data.     

Aplysia oxymyoglobin with an unusual stability property: involvement of two kinds of carboxyl groups

Unlike mammalian oxymyoglobins, Aplysia MbO2 is extremely susceptible to autoxidation, and its pH dependence is also unusual. Kinetic formulation has revealed that two kinds of dissociable group with pK1 = 4.3 and pK2 = 6.1, respectively, at 25 degrees C are involved in the stability property of Aplysia MbO2. In order to characterize thermodynamically these dissociation processes involved, the effect of temperature on K1 and K2 was studied by analyzing the pH dependence for the autoxidation rate of Aplysia MbO2 in 0.1 M buffer over the pH range of 4-11, and at 15, 25 and 35 degrees C. The resulting thermodynamic parameters for each group were both those to be expected for the ionization of a carboxyl group; the delta H degrees value being numerically much less than 1 kcal.mol-1, or zero in practice, but being associated with a large negative value of delta S degrees of the order of -20 cal.mol-1.K-1. Taking into account the fact that Aplysia myoglobin contains only a single histidine residue corresponding to the heme-binding proximal one, we can unequivocally conclude that the two kinds of the dissociable group involved in the unusual stability of Aplysia MbO2 must both be carboxyl groups, the protonation of these groups being responsible for an increase in its autoxidation rate in the acidic pH range.     

Cerebral aspergillosis: report of two cases

Two cases of cerebral aspergillosis in Tamilians presenting as intracranial space-occupying lesions are reported. The first patient had a left frontal lobe abscess and a specific diagnosis was made by histopathology and isolation of Aspergillus versicolor. He responded well to excision followed by anticonvulsant therapy. In the other, the diagnosis was based on histopathology alone and she died after surgery. These are the first cases reported from Tamil Nadu and probably only one similar case has been reported from India so far.     

眼部浅绿色气球菌感染4例报道

目的 提高对眼部气球菌感染的认识.方法 报告4例眼部气球菌感染病例并复习文献,对其发病因素、临床症状、诊断、及治疗和预后进行分析.结果 4例眼部感染气球菌患者为中年或老年人,基础疾病为青光眼、糖尿病(2例)及甲状腺功能亢进症,均经病原菌的分离鉴定后确诊为浅绿色气球菌感染,且对左氧氟沙星、万古霉素等常用药敏感,4例患者中除1例青光眼患者用药效果不理想外,其余均经1～2周的治疗后痊愈.结论 对眼部感染患者,应加强浅绿色气球菌的分离与鉴定.