PERSISTENT ASYMPTOMATIC SEVERE HYPOGLYCAEMIA DUE TO TYPE 0A GLYCOGENOSIS - GENERAL AND ORO-DENTAL ASPECTS.

BACKGROUND: Type 0 glycogenosis is a genetic metabolic disorder characterized by the absence of glycogen synthesis of hepatic synthase and hence of liver glycogen stores in normal amounts. It is an extremely rare condition. CASE STUDY: This case is a 5-year and 11-month-old female child with asymptomatic severe hypoglycemia in the last two years. During the admission and afterwards, an extensive panel of paraclinical and imaging investigations was carried out to diagnose and document the case, which led to the specific genetic test. The result was positive for 2 heterozygous mutations in the GYS2 gene (hepatic glycogen synthase), the p.547C> T mutation was pathogenic (class 1) and c.465del, frameshift likely pathogenic (class 2). In order to integrate the clinical picture of patients with this condition and to establish potential correlations regarding the specific aspects with the general development and the phenotype, the oro-dental status was investigated. CONCLUSION: The investigations showed a positive correlation with literature data in several respects: low stature, hypoglycemia with hyperketonemia but normal plasma lactate, postprandial and contradictory hyperglycemia, delayed bone development, etc. Oro-buco-maxillary aspects showed a slight delay in the dental eruption. Dietary therapy and stricter dental care and additional prophylaxis are required.

New organophilic kaolin clays based on single-point grafted 3-aminopropyl dimethylethoxysilane.

In this study, the organophilization procedure of kaolin rocks with a monofunctional ethoxysilane- 3 aminopropyl dimethyl ethoxysilane (APMS) is depicted for the first time. The two-step organophilization procedure, including dimethyl sulfoxide intercalation and APMS grafting onto the inner hydroxyl surface of kaolinite (the mineral) layers was tested for three sources of kaolin rocks (KR, KC and KD) with various morphologies and kaolinite compositions. The load of APMS in the kaolinite interlayer space was higher than that of 3-aminopropyl triethoxysilane (APTS) due to the single-point grafting nature of the organophilization reaction. A higher long-distance order of kaolinite layers with low staking was obtained for the APMS, due to a more controllable organiphilization reaction. Last but not least, the solid state (29)Si-NMR tests confirmed the single-point grafting mechanism of APMS, corroborating monodentate fixation on the kaolinite hydroxyl facets, with no contribution to the bidentate or tridentate fixation as observed for APTS.

Evaluation of different immunoassays for the detection of antiphospholipid antibodies: report of a wet workshop during the 13th International Congress on Antiphospholipid Antibodies.

BACKGROUND: The performance and standardization of anticardiolipin (aCL) and anti-ß2 glycoprotein I antibodies (aß2GPI) tests for the confirmation of diagnosis of antiphospholipid syndrome (APS) remain a matter of debate and concern. We evaluated the performance of different ELISAs and other new immunoassays for the detection of aCL and aß2GPI in a wet workshop at the 13th International Congress on Antiphospholipid Antibodies in Galveston, TX (April 13th, 2010, APLA 2010). METHODS: Aliquots of 26 un-identified APS or persistently aPL positive serum samples and 21 controls (9 from healthy individuals and 5 from patients with infectious diseases and 7 with various autoimmune diseases) were distributed to all participants/groups. All serum samples were evaluated in various aCL and aß2GPI ELISAs, a chemiluminescent immunoassay, a fluoro-enzyme immunoassay, and in a multiplexed immunoassay system. Monoclonal and polyclonal calibrators were also evaluated. RESULTS: Although not all the assays reported the titers of aCL and aß2GPI in the same units, the correlation of positive titers among the assays was good. All aCL and aß2GPI tests showed excellent clinical sensitivities, specificities and positive predictive values and good agreement with respect to the levels of the IgG and IgM antibodies, regardless of assay type, or whether tests were done using automated or "manual" systems. CONCLUSIONS: New methodologies for the detection of aPL look promising and comparable to currently approved ELISA tests. This study provides evidence of progress of efforts of harmonization of tests used to detect aPL.

Breast-conserving surgery in breast cancer.

The breast cancer treatment is based nowadays on new surgical options: breast-conserving surgery, which applies at least for the first and second stage cancer, with radical intention. We have been practicing breast-conserving surgery for the last 16 years and we have performed 303 breast conserving operations from a total of 673. We recorded 12 local recurrences (3,96%) and 2 deaths due to cancer progression. Our protocol includes removal of the primary tumor with enough surrounding tissue to ensure negative margins of the resectable specimen, associated with axillary lymph-node dissection and postoperative breast irradiation. Our oncologist indicated chemotherapy on different postoperative conditions: tumor size, axillary lymph node involvement, patient's age, etc. The purpose of this paper is to emphasize our modest experience, nevertheless to draw the attention on important results, obtained by long-term monitoring of the patients who underwent breast-conserving surgery, in a two prospective protocols, and demonstrate the importance and applicability of breast conserving therapy. The conclusion of this study is that breast-conserving surgery followed by breast irradiation is reliable, as the results are similar with radical mastectomies; the main objective is to obtain a good cosmetic result, which depends on tumor size / breast size.

Clinical diagnosis of cardiac involvement in HIV infection.

HIV infection is continuously raising, and different treatments did not manage to extend the patient's life. Clinical and morphopathological features of respiratory, gastrointestinal, hematological and nervous system are well characterized in HIV infection, but cardiac involvement is not so well known. Cardiac involvement is extremely rare in HIV disease, but demonstrated by echocardiography and anatomo-pathologic methods, it is more frequently met than the clinical features are supposed to be, and it can be demonstrated by positive serologic tests.The main reason of this research is the necessity to obtain data from HIV infection concerning heart involvement.

[Obstructive jaundice by genodermatosis--case report]. / Icter obstructiv prin genodermatoza--caz clinic.

BACKGROUND: Neurofibromatosis type I, or Recklinnghausen disease, is the most frequently occurring neurofibromatosis, in 1/3000-11,5000 of children born. This disease is a genodermatosis with 1/3000-1/5000 autosomal dominant transmission. Incriminated in the pathological appearance of the disease gene is located on chromosome 17, gene product, neurofibromina, is a protein involved in controlling cell differentiation and proliferation. Skin manifestations can be associated with the same papillary tumors and the internal organ. Treatment is surgery for larger tumors. Worse prognosis in malignant developpment, with the lower quality of life in the presence of complications, as in this case: mechanical obstructive jaundice. MATERIAL AND METHOD: Patients aged 75 years, admitted for obstructive jaundice (progressive, pruritic), cutaneous papillomas (0.5-3 cm) on the trunk and several hyperpigmented brown spots (5-6 cm diameter). Cutaneous lesions (45 years old) have been previously diagnosed by histological examination. RESULTS: We did surgery under general anesthesia: cholecystectomy, intraoperative choledocoscopy of bile duct. In the last portion of bile duct we found pedicled tumors. We did partial excision of tumors and coledoco-duodenoanastomosis in healthy tissue. Histological examination showed neurofibrodermatoza type I. Discharge 12 days postoperatively. CONCLUSIONS: Preoperative diagnosis suggested the possibility of mechanical jaundice by malignancy. Etiologic diagnosis of this rare form of obstructive jaundice could not be established before surgery, only by histological examination of the excised tumors.

Physio-chemical hydrodynamic mechanism underlying the formation of thin adsorbed boundary films.

The formation of low shear strength surface-adhered thin films mitigates excessive friction in mixed or boundary regimes of lubrication. Tribo-films are formed as a consequence of molecular chemical reactions with the surfaces. The process is best viewed in the context of a lubricant-surface system. Therefore, it is usually surmised that the adsorption of lubricant molecular species to the contact surfaces is underlying to the formation of ultra-thin lubricant films. The paper considers contact between smooth surfaces at close separation. This may be regarded as the contact of a pair of asperity summits, whose dimensions, however small, are far larger than the size of fluid molecules within the conjunction. In such diminishing separations the constraining effect of relatively smooth solid barriers causes oscillatory solvation of fluid molecules. This effect accounts for the conjunctional load capacity but does not contribute to mitigating friction, except when molecular adsorption is taken into account with long chain molecules which tend to inhibit solvation. The paper presents an analytical predictive model based on the Ornstein-Zernike method with the Percus-Yevick approximation of a narrow interaction potential between conjunctional composition. The predictions confirm the above stated physical facts in a fundamental manner.

IgM, but not IgA rheumatoid factor interferes with anti-cardiolipin and antiß2 glycoprotein I measurements: a quantitative analysis.

IgM rheumatoid factor (RF) is sometimes referred to as capable of causing interference in the IgM anti-cardiolipin (aCL) testing. Published guidelines are, however, inconsistent, and evidence regarding the interference is limited. Our goal was investigate IgM and IgA RF cross-reactivity and/or interference in IgM and IgA aCL and anti-ß2 glycoprotein I (aß2GPI) testing. Serum specimens with high IgM and IgA RF levels were tested for IgG, IgA and IgM aCL and aß2GPI antibodies to examine cross-reactivity. Samples containing IgG aCL and aß2GPI antibodies were spiked with IgM (and IgA) RF, and samples with high RF levels were spiked with IgG aCL antibodies. The mixtures were tested for IgM and IgA aCL and aß2GPI antibodies. Specimens with high IgM and IgA RF concentrations did not test positive for IgM or IgA aCL and aß2GPI antibodies (except one weak positive IgA aß2GPI result), indicating the lack of cross-reactivity. In the spiked specimens, addition of IgM RF caused significant positive bias in the measurement of both aCL and aß2GPI antibodies of IgM isotype in the presence of IgG aCL and aß2GPI antibodies. The threshold for triggering significant interference was 318( )IU/ml for IgM RF, and 77 GPLU/ml for IgG aCL. Neither IgM, nor IgA RF, however, affected the IgA antiphospholipid (aPL) antibody testing. IgM RF can cause a false-positive IgM aCL result in the presence of IgG aCL antibodies. In studies on the prevalence and clinical significance of IgM aPL antibodies, RF interference should be considered and RF testing should be performed.

Effect of bariatric surgery on normal and abnormal renal function.

BACKGROUND: Obesity has been associated with hypertension, diabetes mellitus, and metabolic syndrome, risk factors for chronic kidney disease. In addition, obesity has been found to have an independent, negative effect on renal function and the progression of renal insufficiency. METHODS: The serum creatinine (CR) in 813 patients who had undergone obesity surgery from 2003 to 2009 at a large academic medical center and had been followed up for ≥24 months was retrospectively monitored. Renal function, as measured by the CR level, was assessed at baseline and at 6, 12, and ≥24 months of follow-up. The groups were stratified by the baseline CR as follows: normal (CR <1.3 mg/dL), mild impairment (CR 1.3-1.6 mg/dL), and moderate impairment (CR >1.6 mg/dL). RESULTS: Of the 813 patients, 757 had a CR <1.3 mg/dL at baseline. Of those 757 patients, 97.6% had maintained a CR of <1.3 mg/dL, 1.3% had a CR of 1.3-1.6 mg/dL, 1.1% had a CR of >1.6 mg/dL (n = 757) at 6 months of follow-up. At 1 year of follow-up, 99% had maintained a CR of <1.3 mg/dL and 1% had a CR of >1.3% (n = 509). At 2 years of follow-up, 100% had a CR value of <1.3 mg/dL (n = 388). Of the remaining 56 patients, 71.4% had been classified as having mild impairment (CR 1.3-1.6 mg/dL) and 28.5% as having moderate impairment (CR >1.6 mg/dL) before weight loss surgery. Examination of the CR values at ≥2 years after weight loss surgery demonstrated that 76.7% had a normal CR level, 12.5% had mild impairment, and 10.7% had moderate impairment. CONCLUSION: Bariatric surgery does not have a negative effect on renal function as measured by the CR, whether CR at baseline is <1.3 or ≥1.3 mg/dL when monitored for ≥24 months. For those with impaired renal function and a CR ≥1.3 mg/dL, improvement in CR was seen in 76.7% at ≥2 years postoperatively, at a point at which the weight loss velocity, hydration, and nutritional status have stabilized. The weight loss associated with bariatric surgery could potentially have a positive effect on renal function at ≥24 months, such as was found in the present study by a stable or reduced CR level. The etiology for this might be a direct effect of weight loss on impaired renal function or an indirect effect by reducing the rates of co-morbidities, such as diabetes mellitus and hypertension, both risk factors for renal disease. Additional prospective studies, including weight-matched controls, are needed.

[Diseases mimicking advanced-stage epithelial ovarian cancer]. / Afectiuni mimând cancerul ovarian epitelial în stadiu avansat.

This paper draws attention towards 3 cases with different pathologies all of which suggesting however both clinically and by imaging means as the most likely diagnosis advanced-stage epithelial ovarian cancer since all these three postmenopausal women had been admitted to the hospital with ascites, pelvic masses and deterioration of the physical wellbeing (fatigue, decreased appetite, weight loss, pallor). Findings during exploratory laparotomy on all these three pacients included ascites (hemorragic in one case) diffuse tumorous implants throughout the abdominal and pelvic peritoneal surfaces (in two cases) and the ovarian tumour. Postoperatively, the final histopathologic diagnoses consisted of primary peritoneal carcinoma (one pacient), peritoneal tuberculosis (TB, one pacient) and hepatic cirrosis with an incidental benign adnexial mass (one pacient). Moreover, nonmalignant ovarian tumours were certified in all three cases under current presentation. The differential diagnosis of the ovarian cancer and a tailored approach to treatment for each of these three pathologic entities will also be described in detail.

B cell depletion therapy in systemic lupus erythematosus: relationships among serum B lymphocyte stimulator levels, autoantibody profile and clinical response.

OBJECTIVE: To assess the relationships between serum B lymphocyte stimulator (BLyS) levels, autoantibody profile and clinical response in patients with systemic lupus erythematosus (SLE) following rituximab-based B cell depletion therapy (BCDT). METHODS: A total of 25 patients with active refractory SLE were followed for >or=1 year following BCDT. Disease activity was assessed using the British Isles Lupus Assessment Group (BILAG) system, and serum levels of BLyS and autoantibodies to dsDNA and extractable nuclear antigens (ENA) measured by ELISA. Serum immunoglobulins and anti-dsDNA antibodies were assessed for expression of the 9G4 idiotope (indicating VH4-34 germline gene origin). RESULTS: Following BCDT, all patients depleted in the peripheral blood and improved clinically for >or=3 months. Pre-BCDT BLyS levels were quantifiable (median 1.9 ng/ml) in 18/25 patients and rose in most patients at 3 months post-BCDT (median 4.15 ng/ml). Nine patients, all with quantifiable pre-BCDT serum BLyS, experienced a disease flare within 1 year. This group of patients was more likely to harbour anti-Ro/SSA antibodies (odds ratio 1.76; p = 0.06) with higher serum levels (p = 0.0027; Mann-Whitney U test). Serum levels of anti-ribonucleoprotein (RNP)/Sm were also higher in this group (p<0.05). Expression of VH4-34 by serum immunoglobulins and anti-dsDNA antibodies had no predictive value for the length of clinical response. CONCLUSIONS: Patients with SLE with an expanded autoantibody profile and raised BLyS levels at baseline had shorter clinical responses to BCDT. This may reflect a greater propensity to, and degree of, epitope spreading in such patients and suggests that treatment regimens beyond BCDT may be necessary to induce long-lasting clinical remissions in these individuals.

[Stress urinary incontinence. Diagnostic and therapeutic aspects]. / Incontinenta urinara de efort. Aspecte diagnostice si terapeutice.

OBJECTIVE: The paper analyses the incidence, diagnosis and treatment options available for stress urinary incontinence (SUI) in women with pelvic floor dysfunction admitted to Craiova's Surgery Clinic IV. METHODS: This is a retrospective 10-year study comprising a surgical cohort of 420 patients with significant enough to alter quality of life SUI associated to ureterocele and cystocele and in 353 cases with rectocele too. The highest incidence of SUI was encountered between 50 and 59 years of age (range 39 - 81 years). In 21 of this case series the diagnosis of SUI was established soon after the surgical repair of the urethro-cystocele. The diagnosis of SUI was based on careful history and physical examination with emphasis on the gynecologic survey of the abdomen and pelvis but in the absence (for objective reasons) of urodynamic testing which is especially useful for SUI pathophysiological evaluation and thus surgery success rate prediction. All our 420 severe SUI associated with vaginal wall hernias underwent surgical treatment by either open Burch retropubic urethropexy or anterior colporraphy. RESULTS: Among anterior colporraphy treated patients SUI persisted in 19.3% of the cases (33 patients). Complications of Burch urethropexy procedure (despite its high ability for cure) in our case series include: urinary retention, hemorrhage into the space of Retzius, intraoperative injury to the bladder and long-term postoperative incisional hernia. Moreover, 5 patients (2%) of the group who underwent Burch operation were readmitted with recurrent urinary incontinence between 2 and 6 months after the aforementioned surgical intervention despite its good anatomical results in all of these cases. CONCLUSIONS: SUI is a prevalent disorder of women that can be diagnosed easily with history and physical exam. If symptoms persist and severely affect quality of life, despite modern noninvasive treatments, several surgical procedures are now available.

B cell depletion therapy in systemic lupus erythematosus: effect on autoantibody and antimicrobial antibody profiles.

OBJECTIVE: Autoantibody production in patients with systemic lupus erythematosus (SLE) is associated with abnormalities of B cell function and phenotype. Clinical responses to B cell depletion therapy (BCDT), based on rituximab, are encouraging. Therefore, we undertook this study to investigate the effect of BCDT on antibody profiles. METHODS: Serial sera from 16 patients with active, refractory SLE were assayed for antinucleosome antibodies, anti-double-stranded DNA (anti-dsDNA), anti-extractable nuclear antigen, anti-tetanus toxoid, and antibodies to pneumococcal capsular polysaccharide for at least 1 year following BCDT. Anti-dsDNA antibodies derived from the V(H)4.34 immunoglobulin germ line gene (9G4+) were also measured. RESULTS: All patients achieved peripheral B cell depletion and improved clinically for at least 3 months. Antinucleosome and anti-dsDNA antibodies decreased to a mean +/- SD of 64 +/- 37% and 38 +/- 33% of baseline values, respectively, by 6-8 months post-BCDT. Levels of other autoantibodies and antimicrobial antibodies were generally unchanged. In the 9 of 16 patients who were still well at 1 year, anti-dsDNA antibodies fell to 42 +/- 36% of baseline values at 6-8 months and to 37 +/- 33% at 10-14 months. In patients who had disease flares within 1 year of BCDT, levels of these antibodies decreased to 60 +/- 40% and 83 +/- 93% of baseline values at 6-8 months and at 10-14 months, respectively. Circulating anti-dsDNA antibodies were positive for 9G4 expression in 4 of 6 patients tested, and flares in 2 of these patients were accompanied by rises in 9G4+ anti-dsDNA antibodies. CONCLUSION: These observations suggest that B cell clones committed to producing antinucleosome and anti-dsDNA antibodies, including the V(H)4.34 subpopulation of anti-dsDNA antibodies, have a relatively rapid turnover compared with B cell clones producing other antibodies. There was also a trend toward a greater and more sustained decrease in anti-dsDNA antibodies in patients with clinical benefit lasting >1 year.

[Surgical methods of covering head soft tissues defects]. / Modalitati chirurgicale de acoperire a defectelor de parti moi la nivelul capului.

Posttraumatic and post-excisional head soft tissue defects represent a challenge for the plastic surgeon due to the functional and esthetic impact of this body area. Choosing the simplest way of covering a defect is many times the most efficient way, but it must deliver a good tissue cover and their aspect and function must simulate the characteristics of that area. This article is proposing to be a brief description of all these procedures, informing and being necessary for every general surgeon. The methods of covering head soft tissues defects specific to plastic surgery will be presented in a ladder way from simple to complex, that means from the simple skin graft to island flaps and the tissues transfers. Choosing a right procedure refers to the etiopathogeny, and the length and width of the defect. We shall present advantages and disadvantages of each procedure, indications and their limits, giving specific clinical cases. We shall present the results for each type of procedure also, giving specific arguments for our option. We'll insist on the functional reconstruction of the lids, nose and cheek, as single defects and on the surgical limits which come upon very large soft tissue defects. Due to the complexity of the head structures, either single or complex, and to the functional and esthetic impact of these soft tissue defects, we consider this paper to be a real benefit. It is very important to choose the right procedure, considering all the factors who are implicated (sex, age, general condition, etiopathogeny, the length and width of the defect, previous treatments, patient wish, etc).

[The mirage of the first lesion (gallstones) and laparoscopic cholecystectomy are able to defer the diagnosis of colon cancer]. / Mirajul primei leziuni (litiaza veziculara) si colecistectomia laparoscopica pot întârzia diagnosticul de cancer colic.

The study's aim was to analyze a series of colon cancer cases in which the mirage of the first (clinically most obvious) lesion (gallstones) along with its minimally invasive approach - that explored only the biliary disease - had contributed to the delay of large bowel malignancy' diagnosis and treatment. 1327 patients aged between 17 and 83 years and diagnosed with cholecystolithiasis were operated upon laparoscopically in the Department of General Surgery of Craiova CFR University Hospital from 2000 through 2004. Four out of these 1327 patients (0,3%) were readmitted with the diagnosis of colon carcinoma between 1 and 16 months after the laparoscopic cholecystectomy. Our retrospective study gives a full report on these 4 cases insisting upon the links between their clinical - laboratory evaluations and final diagnosis. Despite the low laparoscopic cholecystectomy overlooked colon cancer' incidence it seems reasonable to both improve the technique of peritoneal cavity exploration during this type of surgery and extend the preoperative evaluation whenever the slightest suspicion of associated pathology is raised especially in patients over 50 years of age.

[The experience at the 4th Surgery Department of the University Hospital C.F. Craiova in the surgical treatment of inguinal hernia]. / Experienta Clinicii Chirurgicale IV a Spitalului Universitar C. F. Craiova în folosirea plaselor sintetice în tratamentul chirurgical al herniilor inghinale.

This paper aim is to present the experience of Surgery Department IV of University Hospital C. R. Craiova in groin hernias treatment using prosthetic meshes, also describing an original technical procedure of mesh-plasty that we have been practicing successfully in our clinic. The study is based on a number of 1757 groin hernias operated in Surgery Department IV of University Hospital C. F. Craiova during a period of 11 years (1993-2003). There have been used prosthetic meshes in a number of 230 hernias operated for the most part in the last years since mesh repair has become habitually. We have been using so far only prosthetic mesh made in Romania (polyester mesh). We had a single recurrent hernia and the immediate complications were minimal. The study refers us to practice prosthetic mesh repair in an extensive way and offers a technical alternative in using of prosthetic meshes by a simple and efficient procedure with good postoperative results.

[False surgical acute abdomen with intermittent acute porphyria]. / Fals abdomen acut chirurgical în cadrul unei porfirii acute intermitente.

This article presents a case of acute intermittent porphyria admitted to the Surgery Department of C.F. Craiova Hospital between 18.08.2003-26.08.2003 then transferred to the Colentina Hospital in Bucharest for diagnosis confirmation and adequate treatment. The purpose of this paper is to bring attention on a rare metabolic inherited disease that, due to its non-specific and often noisy symptoms and limited possibilities of biochemical, enzymatic and genetic diagnosis, could generate potential serious confusions. The presentes case illustrates the fact that sometimes the acute attack may be mistaken for an acute surgical affection which requires an emergency operation with all the aggravating consequences and delay in the real diagnosis. About 1% of acute attacks of porphyria may be fatal. Only the drugs known as safe should be prescribed. Basic treatment consists in oral and intravenous glucose and hematin administration.