Prenatal diagnosis of cri-du-chat syndrome: importance of ultrasonographical markers.

Cri-du-chat syndrome is a chromosomal abnormality involving a 5p deletion and is characterised by a cat-like cry, mental retardation, microcephaly and abnormal facial features. We report a case of prenatally-diagnosed cri-du-chat syndrome. Although PAPP-A was low at first trimester screening (FTS), the combined risks of trisomies 21, 18 and 13 were low. Amniocentesis was, however, carried out following the ultrasonographical observation of a severely hypoplastic nasal bone, cerebellar hypoplasia, choroid plexus cyst and a single umbilical artery during the second trimester. This case report highlights the importance of careful examination of basic and extended foetal biometry and structures, as well as soft markers for the detection of rarer chromosomal abnormalities that may be missed at FTS.

Community-acquired Klebsiella pneumoniae complicated skin and soft-tissue infections of extremities: emphasis on cirrhotic patients and gas formation.

BACKGROUND: Klebsiella pneumoniae was rarely reported to cause complicated skin and soft tissue infections (cSSTIs). Our study was to delineate clinical characteristics and outcome of cSSTIs involving extremities caused by K. pneumoniae. PATIENTS AND METHODS: Adult patients aged 16 years or more with community-acquired cSSTIs, which involved the extremities and were caused by four common aerobic pathogens at a medical center in southern Taiwan during a 54-month period, were reviewed. RESULTS: Of 76 cases enrolled, Staphylococcus aureus was the most common pathogen (52 cases, 68%), followed by K. pneumoniae (16, 21%), beta-hemolytic streptococci (5, 7%), and Escherichia coli (3, 4%). Forty-six (61%) had underlying conditions, and diabetes mellitus was most common among K. pneumoniae and non-K. pneumoniae groups (63% and 45%, respectively). Compared to patients with cSSTIs caused by other bacteria, those with K. pneumoniae cSSTIs were predominantly male, more often had liver cirrhosis, malignant neoplasm and alcoholism. In addition, they were more likely to have fever, shock, bacteremia, gas formation, pyomyositis, metastatic infections, as well as longer durations of hospitalization. Using multivariate analysis, liver cirrhosis (adjusted odds ratio [aOR] 12.5, 95% confidence interval [CI] 2.0-79.1, p = 0.007) and male gender (aOR 11.5, 95% CI 1.1-116.8, p = 0.039) were significantly associated with K. pneumoniae cSSTIs. CONCLUSIONS: We highlight the role of K. pneumoniae in Taiwanese patients with cSSTIs involving extremities, and its potential for gas and pus formation, and metastatic infections. Empiric antimicrobial coverage of K. pneumoniae and close monitoring of metastatic infections are mandatory for patients with risk factors.

The relevance of oncogenes as prognostic markers in cervical cancer.

To study the prevalence of the oncogenes c-myc, IFN-alpha; c-erbB2; H-ras codon 12, 13, and 61; c-fos; and E6/E7 oncogenes of human papillomavirus (HPV) 16 in patients with invasive carcinoma of the cervix and their prognostic significance, genomic DNA and RNA were isolated from tissues of 275 patients in Singapore with nonmetastatic cervical cancer and 32 patients with normal cervix. The levels of expression of the various oncogenes were quantified by PCR using the respective primers. When the PCR data on the DNA were analyzed by the log-rank test, IFN gamma (P = 0.02) and H-ras codon 12 and 13 (P = 0.02) were found to be prognostic. In the multivariate analysis, a statistically significant trend for increasing risk with higher quartiles was found for c-myc (P = 0.007) and c-erbB2 (P = 0.03). After adjusting for age and stage, a correlation appears between the amplification of the oncogenes c-myc, c-erbB2, and H-ras codon 12, 13, and 61 and the development of recurrent cervical cancer. Further adjustment to include the parameters of treatment and histology type did not change the outcome of the correlation observed.

Intraventricular hemorrhage caused by lateral ventricular meningioma: a case report.

Meningiomas causing intracranial hemorrhage are rare, and hemorrhage from a lateral ventricular meningioma seems to be even rarer. We report a case of trigonal meningioma in a 43-year-old woman who presented with intraventricular hemorrhage, and describe the CT, MRI and angiographic findings.

Complications of eyelash and eyebrow tattooing: reports of 2 cases of pigment fanning.

Eyelash and eyebrow tattooing are commonly performed procedures that have a very low rate of reported complications. We describe one case of infraorbital pigmentation after eyelash tattooing and another of periorbital pigmentation after eyebrow tattooing. Although most complications related to eyelash and eyebrow tattooing, including pigment fanning, have been reported by ophthalmologists, pigment fanning is also of concern to dermatologists.

A comparative study of cervical cytology, colposcopy and PCR for HPV in female sex workers in Singapore.

This study examined the prevalence of human papillomavirus (HPV) infection in a cohort of female sex workers in Singapore. HPV infection was diagnosed by clinical examination, Papanicolaou (Pap) smears, histology and polymerase chain reaction (PCR). One hundred and eighty-seven female sex workers who came for their routine medical screening were enrolled into the study. PCR was positive for HPV in 27 (14.4%), 20 of these had a single HPV type detected, while 7 had multiple types of HPV detected. The most common HPV types identified were types 16, 58 and 18. In conclusion, HPV infection is moderately prevalent among sex workers as tested by PCR, but routine screening with Pap smears does not appear to be a sensitive method of diagnosis for HPV infection.

Shunt-independent surgical treatment of middle cranial fossa arachnoid cysts in children.

The best operative intervention for children with arachnoid cysts remains the subject of controversy. Recent reports stress that craniotomy for cyst fenestration is associated with a low incidence of morbidity and mortality and may leave the child shunt-independent. Among a total of 66 intracranial arachnoid cysts operated on in the authors' department from 1985 to 1997, 44 cases (67%) were located in the middle cranial fossa. A higher incidence in the first decade of life (53 cases) and a marked male predominance (45 cases) were recognized. Headache, cranial deformities, symptoms of raised intracranial pressure, and seizures constituted the most frequent features of the clinical presentation. To determine which treatment provides the greatest benefit with the lowest incidence of complications, the records of the 44 patients with arachnoid cysts in the middle cranial fossa were reviewed. The mean age of these patients was 4.6 years (range 0-16 years). Different types of initial surgical procedures were performed. In 33 patients with middle cranial fossa arachnoid cysts (MCFAC) the initial surgery took the form of craniotomy with excision of the cyst walls and fenestration into the basal cisterns. Shunting procedures were performed in 9 patients: cysto-peritoneal shunts (CPS) were placed in 4 patients and ventriculo-peritoneal shunts (VPS), in 3 patients, and cyst excision was performed in addition to CPS in 2 patients. Excision of the cyst membrane alone without fenestration was performed in 2 patients. The initial treatment was successful in terms of reduced symptoms and decreased cyst size, with no additional treatment needed for the cyst, in 79% (26/33) of patients who had undergone excision of the cyst walls and fenestration into the basal cisterns, compared with 66% (6/9) of patients who had undergone shunting procedures. Cyst membrane excision was not successful in any of the patients who underwent this procedure alone. No significant difference in morbidity was noted between these different treatment options. On follow-up CT scan and MRI, cysts of types I and II (Galassi classification) exhibited a steady tendency to reduction or obliteration. These results confirm that radical excision of the outer and inner membranes of the cyst wall with fenestration into the basal cistern is a safe and effective shunt-independent procedure for MCFAC, especially for those of types I and II.

An unusual tumour metastasis to the cervix.

INTRODUCTION: The vast majority of tumours in the cervix are either primary carcinomas or direct extension of primary tumours from nearby sites such as the endometrium, myometrium, rectum and bladder. Patients usually present with abnormal bleeding, pain and dyspareunia. A smaller number of patients are asymptomatic and their tumours can be diagnosed early by PAP smears. CLINICAL PICTURE: We present an unusual case of an elderly lady with breast cancer that had metastasized to the cervix 4 years after primary treatment of the breast malignancy. Although the appearance of the cervix was "normal looking", it was firm and indurated on palpation. PATHOLOGY: A definite diagnosis of metastatic infiltration could only be made by colposcopic biopsy. Early PAP smears had shown some abnormal cells suggestive of metastatic lobular carcinoma but were not conclusive of metastasis from breast carcinoma. Subsequent bone scans and CT scans of the abdomen revealed metastatic lesions in the skull, spine, left femoral shaft and liver.

Long-term follow-up of shunting therapy.

Ventricular CSF shunting surgery has changed the overall outcome figures for hydrocephalic patients over the past three decades. The factors that have improved the outcome are evolution of the shunt systems, improvement of the surgical environment and use of potent antibiotics, technological advances in brain imaging, and refinements in the assessment of cognitive and functional outcomes and of actuarial statistical techniques. But the recent large studies revealed that nearly half of all shunt placements were for revision, and there is a low but real percentage of cases in which death and neurological impairment are related to shunt surgery. The most frequent complication was shunt obstruction, followed by infection, disconnection, hematoma and slit ventricle syndrome. This clearly means that the shunt systems and the techniques in current use involve many problems that have yet to be solved. To solve these problems, new shunt systems should be developed and continuous efforts at reducing shunt infection should be made. The overall complication rate in the authors' series was 31.7%, but we have been able to reduce the complication rate from 37% to 25% by exercising special care focused on the surgical environment and techniques. Careful, long-term follow-up using various parameters and proper statistical analysis is another important factor in improving surgical outcome. Multicenter and international studies will be easier with the development of a network, and it will give us a strong background to treat hydrocephalus.

Leukemic macrocheilia associated with chronic lymphocytic leukemia.

Specific cutaneous infiltrates in chronic lymphocytic leukemia presenting as a tumor or a large nodule on the face, scalp, and upper trunk are rare; involvement of the oral mucosa is extremely rare. We report a case of leukemic macrocheilia that occurred three years before a diagnosis of chronic lymphocytic leukemia was made.

Radiotherapy for the treatment of metastatic granulosa cell tumor in the mediastinum: a case report.

OBJECTIVE: We report a case of metastatic ovarian granulosa cell tumor in the mediastinum with a 2-year disease-free interval after treatment with radiotherapy and review the literature regarding the use of radiotherapy in recurrent and metastatic granulosa cell tumor. METHODS: The patient's medical records, histological slides, and radiological films were reviewed. The pertinent references were obtained using a Medline search and cross-references. RESULTS: A patient with Stage 1A granulosa cell tumor developed a recurrence in the retroperitoneum 10 years after initial surgery. She was treated with chemotherapy followed by surgical resection. She subsequently developed metastatic tumor in the mediastinum which responded completely to radiotherapy. She has remained disease free for 2 years since the completion of radiotherapy. CONCLUSION: Radiotherapy is a treatment option that should be considered in localized recurrent or metastatic granulosa cell tumor that is not amenable to surgery as it can potentially control the disease for several years.

Urticarial reaction following the inhalation of nicotine in tobacco smoke.

We report a patient with recurrent generalized itching and urticaria due to inhalation of nicotine in tobacco smoke. A skin prick test with nicotine base (1:10 w/v) was negative but an intradermal test with nicotine base (1:100 w/v) was strongly positive. Intradermal tests with nicotine base (1:100 w/v) performed on 10 healthy controls were negative. A provocation test with a nicotine patch showed the same symptoms and signs including generalized itching, weals and flares, and mild dyspnoea, which occurred when he was exposed to tobacco smoke. Nicotine in tobacco smoke can act as an inhalant allergen and induce urticaria in hypersensitive persons.

Experience with pineal region tumors.

The results are reported of a retrospective review of the presentation and outcome of 43 pineal region tumors treated from 1982 to 1996, including 20 identified tumors: 5 germinomas, 8 teratomas, 2 embryonal carcinomas, 1 endodermal sinus tumor, 2 pineocytomas and 2 pineoblastomas. Of the 43 tumors reviewed, 36 were located in the pineal region, 5 in the suprasellar, and 2 in both the pineal and suprasellar regions. Twenty patients underwent surgical resection: total in 6 and partial in 10, while only a biopsy was taken in 4 cases. Fifteen patients were managed on the basis of serum CSF tumor markers and radiation response. Twenty-three patients with germinomas received radiotherapy (RT) and had a 5-year survival rate of 87%. Fifteen patients with non-germinomatous germ cell tumors received RT and chemotherapy following direct surgery, and 5 died (mortality rate of 33.3%). The overall survival rate of the 43 patients with pineal tumors was 79.1% (34/43) and the death rate was 20.9% (9/43). It is now recognized that the wide variety of tumor types found in the pineal region necessitates different modes of treatment, and improved microsurgical and stereotactic surgical techniques have made mortality and morbidity rates acceptably low. Because the radiation response and CSF cytology are not enough to determine optimum treatment, a tissue diagnosis should be obtained in all patients.

Tumors of the orbit. Pitfalls of the surgical approach in 37 children with orbital tumor.

The authors review their experience with 37 children with orbital tumors, summarizing their surgical techniques, the indications applied, and the pitfalls of each surgical approach. Tumors located in the retro-ocular or intraorbital space were surgically excised through a transcranial approach (28 cases), while for tumors in other sites lateral orbitotomy (5 cases), medial orbitotomy (1 case) and biopsy (3 cases) were performed. A transcranial approach was used for tumors with intracranial extension and for those located in the orbital apex and deep medial orbital compartment. Lateral orbitotomy was used for tumors located in the superior, temporal or inferior compartment of the orbit and those in the lateral apex. A medial orbitotomy was used for tumors located medial to the optic nerve. Outcomes of the surgical intervention varied, depending on the pathology, location and extent of the individual tumors. To obtain optimal exposure and minimize functional deficits, the pitfalls of surgical approaches to orbital tumors are discussed.

Two cases of primary retroperitoneal mucinous cystadenocarcinoma.

Two cases of primary retroperitoneal mucinous cystadenocarcinoma of the ovarian type in the presence of bilateral normal ovaries are reported. Benign, borderline, and malignant mucinous epithelium were present in both tumors; no separate ovarian tissue was identified. In addition to removal of the tumor, the uterus and both ovaries were removed and the patients are well with no evidence of disease at 30 and 15 months. Only 10 cases of primary retroperitoneal mucinous cystadenocarcinoma have been reported in the English literature and these are reviewed. The outcome of these limited number of cases suggests that removal of both ovaries and the uterus in addition to extirpation of the retroperitoneal tumor, even though the uterus and ovaries are normal, may improve the prognosis.

Unusual proximal migration of ventriculoperitoneal shunt into the heart.

Quite a number of cases of upward shunt migration have already been reported in the literature. In this paper, the intracardiac migration of a peritoneal shunt tube of a ventriculoperitoneal shunt system is reported. This is a rare complication of ventriculoperitoneal shunting and was diagnosed by a plain radiograph of the chest and a direct open heart surgery. To the author's knowledge this is the first reported case of migration of a peritoneal shunt tube into the heart. The authors postulate possible mechanisms and a physioanatomical explanation on the basis of the surgical findings.

Decreased connexin expression and intercellular communication in human bladder cancer cells.

Connexins make up a gene family encoding proteins that form intercellular channels known as gap junctions. Decreases in connexin expression and loss of intercellular communication have been associated with the malignant phenotype in some animal and human cells. The expression of connexin 26 and 43 mRNA was evaluated in cultured normal and malignant human urothelial cells. The normal urothelial cells were shown by Northern analysis to express both connexins. Increased confluence of the cultured normal human urothelial cells was associated with upregulation of connexin 26 mRNA. Connexin 26 mRNA expression was decreased in the bladder cancer cells. Using a human connexin 26 complementary DNA probe, nuclear run-on assays demonstrated that the decreased expression in the cancer cells was due to a failure of transcription. Southern blot analysis did not reveal any alterations in the genomic DNA. Assessment of gap junction function by scrape loading of lucifer yellow demonstrated dye transfer in normal urothelial cells but not in bladder cancer cells. Downregulation of connexin 26 mRNA was associated with functional loss of intercellular communication in the human bladder cancer cells. Connexin 43 expression varied considerably in the bladder cancer cell lines and did not correlate with dye transfer of lucifer yellow. These data suggest that alterations in the regulation of connexin 26 expression are associated with and may contribute to the malignant phenotype in bladder cancer.

Isolation of an X-ray-responsive element in the promoter region of tissue-type plasminogen activator: potential uses of X-ray-responsive elements for gene therapy.

Tissue-type plasminogen activator (t-PA) was induced over 50-fold after X irradiation in radioresistant human melanoma cells (Boothman et al., Cancer Res. 51, 5587-5595, 1991). Activities of t-PA were induced 14-fold in ataxia telangiectasia, 9-fold in Bloom's syndrome and 6-fold in Fanconi's anemia cells, compared to normal human fibroblasts (Fukunaga et al., Int. J. Radiat. Oncol. Biol. Phys. 24, 949-957, 1992). X-ray-inducible synthesis of the protease, t-PA, may play a role(s) in damage-inducible repair processes in mammalian cells, similar to the SOS repair systems in lower eukaryotes and prokaryotes. DNA band shift and DNase I footprinting assays were used to determine binding if transcription factors to a previously unknown X-ray-responsive element (XRE) in the t-PA promoter. The major goals of our research with XREs are to understand (a) which transcription factor(s) regulates t-PA induction after X rays, and (b) the role(s) of t-PA in DNA repair, apoptosis or other responses to X rays. The purpose of this paper is to discuss the potential use of an XRE, such as the one in the t-PA promoter, for gene radiotherapy. Several gene therapy strategies are proposed.